Segmental overgrowth disorders

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
  • Expert Review
Phenotypes
  • Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000
  • MGCPH
OMIM
612655
Clinvar variants
Variants in TBC1D7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Nov 2016, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.

17 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

17 Nov 2016, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for TBC1D7 were set to 24515783; 23687350

7 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

7 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

TBC1D7 was added to Regional overgrowth disorderspanel. Sources: Expert Review

7 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

TBC1D7 was created by rfoulger