Neurological segmental overgrowthGene: TBC1D7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000; MGCPH
Comment on list classification: Changed rating from Green to Red after consultation with Richard Scott, because TBC1D7 is not a confirmed DD gene in G2P, and there are only 2 family cases listed in OMIM.
Created: 17 Nov 2016, 11:15 a.m.
Comment on publications: In 2 Italian sisters with MGCPH, PMID: 24515783 (Alfaiz et al 2014) identified a homozygous 4-bp deletion (c.17_20delAGAG) in the TBC1D7 gene, resulting in a frameshift and premature termination (Arg7ThrfsTer21). In 2 siblings, born of consanguineous parents, with MGCPH, PMID:23687350 (Capo-Chichi et al., 2013) identified a homozygous 1-bp deletion (538delT) in the TBC1D7 gene, resulting in a frameshift and premature termination (Tyr180ThrfsTer1).
Created: 17 Nov 2016, 10:24 a.m.
Comment on list classification: Updated rating from Red to Green because TBC1D7 in original list provided by Richard Scott.
Created: 7 Nov 2016, 2:45 p.m.
gene: TBC1D7 was added gene: TBC1D7 was added to Neurological segmental overgrowth. Sources: Expert Review Red Mode of inheritance for gene: TBC1D7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D7 were set to MGCPH; Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000