Neurological segmental overgrowth

Gene: TBC1D7

Red List (low evidence)

TBC1D7 (TBC1 domain family member 7)
EnsemblGeneIds (GRCh38): ENSG00000145979
EnsemblGeneIds (GRCh37): ENSG00000145979
OMIM: 612655, Gene2Phenotype
TBC1D7 is in 4 panels

2 reviews

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000; MGCPH

Rebecca Foulger (Genomics England curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • MGCPH
  • Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000
OMIM
612655
Clinvar variants
Variants in TBC1D7
Penetrance
None
Panels with this gene

History Filter Activity

31 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

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