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Hydrocephalus

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

4 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from Amber to Red. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. Currently, there is no evidence to support this gene-disease association.
Created: 21 Jun 2021, 1:37 p.m. | Last Modified: 21 Jun 2021, 1:37 p.m.
Panel Version: 2.112
Created: 21 Jun 2021, 1:37 p.m.
Last Modified: 21 Jun 2021, 1:37 p.m.
Panel version: 2.112

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Specifically megalencephaly but no hydrocephalus.
Created: 8 Aug 2020, 2:46 a.m. | Last Modified: 8 Aug 2020, 2:46 a.m.
Panel Version: 2.5
Created: 8 Aug 2020, 2:46 a.m.
Last Modified: 8 Aug 2020, 2:46 a.m.
Panel version: 2.5

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
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

Created: 9 May 2017, 1:23 p.m.

Panel version: 0.58

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Literature
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

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tbc1d7 has been classified as Red List (Low Evidence).

21 Jun 2021, Gel status: 2

Removed Tag

Ivone Leong (Genomics England Curator)

Tag watchlist was removed from gene: TBC1D7.

29 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

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

Created

Helen Brittain (Genomics England Curator)

TBC1D7 was created by helen.brittain

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

TBC1D7 was added to Hydrocephaluspanel. Sources: Literature