Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: TBC1D7

Amber List (moderate evidence)

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

2 reviews

Rebecca Foulger (Genomics England curator)

Added watchlist tag.
Created: 26 Feb 2019, 12:34 p.m.
Comment on list classification: Updated rating from Grey to Amber. Gene added to panel and reviewed Amber by Konstantinos Varvagiannis. Currently only 2 unrelated ID cases from 2 publications (PMID:23687350 Capo-Chichi et al 2013 and PMID:24515783 Alfaiz et al 2014). TBC1D7 is not currently associated with a phenotype in DD-Gene2Phenotype. Therefore rated Amber awaiting further cases.
Created: 26 Feb 2019, 12:33 p.m.

Konstantinos Varvagiannis (Other)

I don't know

PMID 23687350 reports 2 individuals from a consanguineous family with intellectual disability and megalencephaly. Both individuals were homozygous for a frameshift variant in TBC1D7. A further report (PMID 24515783) describes two sisters born to Italian parents from distant villages, homozygous for a TBC1D7 frameshift variant. Both children presented a similar phenotype consisting of mild intellectual disability, macrocrania, patellar dislocation as well as celiac disease.
Created: 13 Aug 2018, 10:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • intellectual disability
  • macrocephaly
  • megalencephaly
Tags
watchlist
OMIM
612655
Clinvar variants
Variants in TBC1D7
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

26 Feb 2019, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: TBC1D7.

26 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).

12 Aug 2018, Gel status: 0

Added New Source

Konstantinos Varvagiannis (Other)

TBC1D7 was added to Intellectual disability panel. Sources: Literature

12 Aug 2018, Gel status: 0

Created

Konstantinos Varvagiannis (Other)

TBC1D7 was created by Konstantinos Varvagiannis