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February 11, 2013

Condition: PDGFRB-associated chronic eosinophilic leukemia
Condition: piebaldism
Gene: ETV6: ets variant 6
Gene: PDGFRB: platelet-derived growth factor receptor, beta polypeptide
Gene: SLC20A2: solute carrier family 20 (phosphate transporter), member 2

February 4, 2013

Condition: arterial tortuosity syndrome
Condition: auriculo-condylar syndrome
Condition: genitopatellar syndrome
Condition: MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
Condition: Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant (often shortened to Ohdo syndrome, SBBYS variant)
Gene: GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
Gene: KAT6B: K(lysine) acetyltransferase 6B
Gene: MPV17: MpV17 mitochondrial inner membrane protein
Gene: PLCB4: phospholipase C, beta 4
Gene: SLC2A10: solute carrier family 2 (facilitated glucose transporter), member 10
Gene family: chromatin-modifying enzymes

January 28, 2013

Condition: combined malonic and methylmalonic aciduria (often shortened to CMAMMA)
Gene: ACSF3: acyl-CoA synthetase family member 3
Gene family: ACS

January 17, 2013

Condition: Myhre syndrome

January 7, 2013

Condition: Cantú syndrome
Condition: juvenile primary osteoporosis
Condition: osteoporosis-pseudoglioma syndrome
Condition: spinal muscular atrophy with respiratory distress type 1 (often shortened to SMARD1)
Gene: ABCC9: ATP-binding cassette, sub-family C (CFTR/MRP), member 9
Gene: DYNC1H1: dynein, cytoplasmic 1, heavy chain 1
Gene family: DYN

December 17, 2012

Condition: Floating-Harbor syndrome
Condition: hereditary diffuse leukoencephalopathy with spheroids (often shortened to HDLS)
Gene: CSF1R: colony stimulating factor 1 receptor
Gene: SRCAP: Snf2-related CREBBP activator protein

December 11, 2012

What is the epigenome?
How are genetic conditions diagnosed?
How are genetic conditions treated or managed?
What is genetic ancestry testing?
What advances are being made in DNA sequencing?
Condition: Lujan syndrome
Condition: task-specific focal dystonia
Condition: Weyers acrofacial dysostosis

December 2, 2012

Condition: Bart-Pumphrey syndrome
Condition: congenital insensitivity to pain
Condition: Dowling-Degos disease
Condition: hereditary sensory and autonomic neuropathy type IE
Condition: hystrix-like ichthyosis with deafness
Condition: keratitis-ichthyosis-deafness syndrome
Condition: palmoplantar keratoderma with deafness
Condition: paroxysmal extreme pain disorder
Condition: small fiber neuropathy
Condition: Vohwinkel syndrome
Gene: DNMT1: DNA (cytosine-5-)-methyltransferase 1
Gene: LOR: loricrin
Gene: SCN10A: sodium channel, voltage-gated, type X, alpha subunit

November 19, 2012

Condition: congenital deafness with labyrinthine aplasia, microtia, and microdontia (often shortened to LAMM syndrome)
Condition: familial HDL deficiency
Gene: APOA1: apolipoprotein A-I
Gene: FGF3: fibroblast growth factor 3

November 5, 2012

Condition: Bietti crystalline dystrophy
Condition: Potocki-Shaffer syndrome
Condition: primary spontaneous pneumothorax
Gene: CYP4V2: cytochrome P450, family 4, subfamily V, polypeptide 2

October 30, 2012

Condition: hypermanganesemia with dystonia, polycythemia, and cirrhosis (often shortened to HMDPC)
Gene: SLC30A10: solute carrier family 30, member 10

October 23, 2012

Condition: adenine phosphoribosyltransferase deficiency
Condition: CHST3-related skeletal dysplasia
Condition: cytochrome c oxidase deficiency
Condition: fatty acid hydroxylase-associated neurodegeneration
Condition: hereditary pancreatitis
Condition: maternally inherited diabetes and deafness (often shortened to MIDD)
Condition: 1q21.1 microdeletion
Gene: APRT: adenine phosphoribosyltransferase
Gene: CHST3: carbohydrate (chondroitin 6) sulfotransferase 3
Gene: FA2H: fatty acid 2-hydroxylase
Gene: MT-TE: mitochondrially encoded tRNA glutamic acid
Gene: PRSS1: protease, serine, 1 (trypsin 1)
Gene family: PRSS
Gene family: SULTM
Gene family: TRNA

October 15, 2012

Condition: familial osteochondritis dissecans
Condition: ulcerative colitis
Gene: ACAN: aggrecan

October 8, 2012

Gene: RBM8A: RNA binding motif protein 8A

October 2, 2012

Condition: glycogen storage disease type IX
Gene: KLLN: killin, p53-regulated DNA replication inhibitor
Gene: PHKA1: phosphorylase kinase, alpha 1 (muscle)
Gene: PHKA2: phosphorylase kinase, alpha 2 (liver)
Gene: PHKB: phosphorylase kinase, beta
Gene: PHKG2: phosphorylase kinase, gamma 2 (testis)

September 24, 2012

Condition: Bannayan-Riley-Ruvalcaba syndrome
Condition: isodicentric chromosome 15 syndrome

September 18, 2012

What is the Encyclopedia of DNA Elements (ENCODE) Project?
Condition: branchio-oculo-facial syndrome
Condition: Dent disease
Condition: 9q22.3 microdeletion
Gene: CLCN5: chloride channel, voltage-sensitive 5
Gene: TFAP2A: transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)

September 10, 2012

Condition: familial hypobetalipoproteinemia
Condition: X-linked infantile spasm syndrome
Gene family: CDK

September 3, 2012

Condition: cold-induced sweating syndrome
Condition: esophageal atresia/tracheoesophageal fistula (often shortened to EA/TEF)
Condition: fragile X-associated primary ovarian insufficiency (often shortened to FXPOI)
Condition: fragile X-associated tremor/ataxia syndrome (often shortened to FXTAS)
Condition: Hirschsprung disease
Gene: CLCF1: cardiotrophin-like cytokine factor 1
Gene: CRLF1: cytokine receptor-like factor 1

August 22, 2012

Condition: Brown-Vialetto-Van Laere syndrome (often shortened to BVVLS)
Condition: craniofacial-deafness-hand syndrome
Condition: familial erythrocytosis
Condition: hyperferritinemia-cataract syndrome
Condition: hyperphosphatemic familial tumoral calcinosis
Gene: C9orf72: chromosome 9 open reading frame 72
Gene: EGLN1: egl nine homolog 1 (C. elegans)
Gene: EPAS1: endothelial PAS domain protein 1
Gene: EPOR: erythropoietin receptor
Gene: FUS: fused in sarcoma
Gene: GALNT3: UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)
Gene: KL: klotho
Gene: SLC52A3: solute carrier family 52, riboflavin transporter, member 3
Gene: TARDBP: TAR DNA binding protein
Gene family: RNASE
Gene family: ZMYND
Gene family: ARHGEF

August 20, 2012

Condition: familial male-limited precocious puberty
Condition: focal palmoplantar keratoderma
Condition: Meesmann corneal dystrophy
Condition: steatocystoma multiplex
Gene: KRT3: keratin 3
Gene: KRT6C: keratin 6C
Gene: KRT12: keratin 12

August 13, 2012

Condition: abdominal wall defect
Condition: familial isolated hyperparathyroidism
Gene: CASR: calcium-sensing receptor

August 7, 2012

Condition: chronic granulomatous disease
Condition: congenital plasminogen deficiency
Condition: surfactant dysfunction
Gene: ABCA3: ATP-binding cassette, sub-family A (ABC1), member 3
Gene: CYBA: cytochrome b-245, alpha polypeptide
Gene: CYBB: cytochrome b-245, beta polypeptide
Gene: NCF2: neutrophil cytosolic factor 2
Gene: NCF4: neutrophil cytosolic factor 4, 40kDa
Gene: PLG: plasminogen
Gene: SFTPB: surfactant protein B
Gene: SFTPC: surfactant protein C
Gene family: CYB

July 30, 2012

Condition: UV-sensitive syndrome
Gene: UVSSA: UV-stimulated scaffold protein A

July 23, 2012

Condition: adiposis dolorosa
Condition: Dandy-Walker syndrome

July 17, 2012

Condition: Blau syndrome
Condition: myasthenia gravis

July 9, 2012

Condition: pyruvate dehydrogenase deficiency
Gene: DLAT: dihydrolipoamide S-acetyltransferase
Gene: PDHA1: pyruvate dehydrogenase (lipoamide) alpha 1
Gene: PDHB: pyruvate dehydrogenase (lipoamide) beta
Gene: PDHX: pyruvate dehydrogenase complex, component X
Gene: PDP1: pyruvate dehydrogenase phosphatase catalytic subunit 1
Gene family: serine/threonine phosphatases

July 2, 2012

Condition: Axenfeld-Rieger syndrome
Condition: Brooke-Spiegler syndrome
Condition: Cushing disease
Condition: familial cylindromatosis
Condition: intrahepatic cholestasis of pregnancy
Condition: juvenile myoclonic epilepsy
Condition: multiple familial trichoepithelioma
Gene: CYLD: cylindromatosis (turban tumor syndrome)
Gene: EFHC1: EF-hand domain (C-terminal) containing 1
Gene: FOXC1: forkhead box C1
Gene: GABRA1: gamma-aminobutyric acid (GABA) A receptor, alpha 1
Gene: PITX2: paired-like homeodomain 2
Gene family: LGIC

June 25, 2012

Condition: Proteus syndrome
Gene: AKT1: v-akt murine thymoma viral oncogene homolog 1

June 18, 2012

Condition: Renpenning syndrome
Gene: PQBP1: polyglutamine binding protein 1

June 11, 2012

Condition: Senior-Løken syndrome
Gene: POLR1C: polymerase (RNA) I polypeptide C, 30kDa
Gene: POLR1D: polymerase (RNA) I polypeptide D, 16kDa

June 4, 2012

Condition: Ewing sarcoma
Condition: pilomatricoma
Gene: CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
Gene: EWSR1: Ewing sarcoma breakpoint region 1
Gene: FLI1: Friend leukemia virus integration 1
Gene family: PARK

May 28, 2012

Condition: Meckel syndrome
Condition: primary sclerosing cholangitis

May 14, 2012

Condition: dopa-responsive dystonia
Condition: familial acute myeloid leukemia with mutated CEBPA
Gene: CEBPA: CCAAT/enhancer binding protein (C/EBP), alpha
Gene family: SDR

May 7, 2012

Condition: hereditary cerebral amyloid angiopathy
Condition: lattice corneal dystrophy type I
Condition: lattice corneal dystrophy type II
Condition: supravalvular aortic stenosis
Condition: tarsal-carpal coalition syndrome
Gene: CST3: cystatin C
Gene: GSN: gelsolin
Gene: ITM2B: integral membrane protein 2B
Gene: NOG: noggin
Gene: TGFBI: transforming growth factor, beta-induced, 68kDa

April 30, 2012

Condition: actin-accumulation myopathy
Condition: benign recurrent intrahepatic cholestasis
Condition: cap myopathy
Condition: intranuclear rod myopathy
Condition: metatropic dysplasia
Condition: purine nucleoside phosphorylase deficiency
Gene: PNP: purine nucleoside phosphorylase
Gene: TRPV4: transient receptor potential cation channel, subfamily V, member 4
Gene family: TRP

April 24, 2012

Condition: neuromyelitis optica
Condition: Wolfram syndrome
Gene: CISD2: CDGSH iron sulfur domain 2

April 16, 2012

Condition: Christianson syndrome
Condition: pseudocholinesterase deficiency
Condition: pyruvate kinase deficiency
Gene: BCHE: butyrylcholinesterase
Gene: PKLR: pyruvate kinase, liver and RBC
Gene: SLC9A6: solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6

March 26, 2012

Condition: craniofacial microsomia
Condition: Loeys-Dietz syndrome
Gene: SMAD3: SMAD family member 3
Gene: TGFBR1: transforming growth factor, beta receptor 1

March 19, 2012

Condition: monilethrix
Gene: DSG4: desmoglein 4
Gene: KRT81: keratin 81
Gene: KRT83: keratin 83
Gene: KRT86: keratin 86

March 12, 2012

Condition: mannose-binding lectin deficiency
Gene: MBL2: mannose-binding lectin (protein C) 2, soluble
Gene family: COLEC

March 5, 2012

Condition: hereditary myopathy with early respiratory failure (often shortened to HMERF)
Condition: Ochoa syndrome
Condition: PDGFRA-associated chronic eosinophilic leukemia
Condition: Salih myopathy
Gene: FIP1L1: FIP1 like 1 (S. cerevisiae)
Gene: HPSE2: heparanase 2

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