What's New on Genetics Home Reference

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

More (the last 12 months)