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Retinal disorders

Gene: TEAD1

Red List (low evidence)

TEAD1 (TEA domain transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000187079
EnsemblGeneIds (GRCh37): ENSG00000187079
OMIM: 189967, Gene2Phenotype
TEAD1 is in 1 panel

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

I don't know

only one icelandic mutation
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

Stephanie Barton (Manchester Centre for Genomic Medicine)

I don't know

Only appears to be a single publication linking this gene to a retinal phenotype. We have not identified mutations in this gene in-house. Insufficient evidence to move this to the green list.
Created: 1 Jun 2016, 11:47 a.m.

Mode of inheritance
Unknown

Phenotypes
Sveinsson chorioretinal atrophy

Publications

  • R Fossdal, L Magnússon, JL Weber, O Jensson. Mapping the locus of atrophia areata, a helicoid peripapillary chroioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15. Hum. Mol. Genet. 4:479-483 (1995).

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:06 a.m.
Comment on list classification: One large Icelandic pedigree, and functional studies reported in OMIM. May only be a founder variant?
Created: 23 Mar 2016, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
OMIM
189967
Clinvar variants
Variants in TEAD1
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TEAD1.

1 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

23 Mar 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

23 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TEAD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TEAD1 was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TEAD1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green