Segmental overgrowth disorders - Deep sequencing
Gene: TBC1D7

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

Created: 15 Nov 2016, 10:37 a.m.

Panel version: 0.10

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.

Created: 7 Nov 2016, 2:45 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert Review

Phenotypes

Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000

OMIM

612655

Clinvar variants

Variants in TBC1D7

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

21 Jun 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TBC1D7 were changed from Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000; MGCPH to Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000

28 Nov 2016, Gel status: 1