Segmental overgrowth disordersGene: 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.
28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Red List (Low Evidence).
Publications for TBC1D7 were set to 24515783; 23687350
This gene has been classified as Green List (High Evidence).
TBC1D7 was added to Regional overgrowth disorderspanel. Sources: Expert Review
TBC1D7 was created by rfoulger