Hydrocephalus

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

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Helen Brittain (Genomics England Curator)

I don't know

Only two unrelated cases to date. Watchlist at present.
Created: 9 May 2017, 1:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Macrocephaly/megalencephaly syndrome, autosomal recessive

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Macrocephaly/megalencephaly syndrome, autosomal recessive
Tags
watchlist
OMIM
612655
Clinvar variants
Variants in TBC1D7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TBC1D7.

31 May 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

9 May 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TBC1D7 was added to Hydrocephaluspanel. Source: Expert Review Amber

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

TBC1D7 was added to Hydrocephaluspanel. Sources: Literature

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

TBC1D7 was created by helen.brittain