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  2. Macular Dystrophy/Stargardt Disease
  3. TEAD1
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Macular Dystrophy/Stargardt Disease

Gene: TEAD1

Amber List (moderate evidence)
TEAD1 (TEA domain transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000187079
EnsemblGeneIds (GRCh37): ENSG00000187079
OMIM: 189967, Gene2Phenotype
TEAD1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Heterozygous missense variant identified in a large Icelandic pedigree and some supporting functional assays. Same missense reported in another family with a clinical diagnosis of circumpapillary dysgenesis of the pigment epithelium (described as a form of macular degeneration). A de novo nonsense variant has also been reported in a case with Aicardi syndrome with infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae.
Sources: Expert list
Created: 22 May 2020, 6:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sveinsson chorioretinal atrophy MIM#108985

Publications

Created: 22 May 2020, 6:14 a.m.

Panel version: 0.11

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Sveinsson chorioretinal atrophy MIM#108985
OMIM
189967
Clinvar variants
Variants in TEAD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tead1 has been classified as Amber List (Moderate Evidence).

22 May 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tead1 has been classified as Amber List (Moderate Evidence).

22 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TEAD1 was added gene: TEAD1 was added to Macular Dystrophy/Stargardt Disease. Sources: Expert list Mode of inheritance for gene: TEAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TEAD1 were set to 15016762; 17689488; 30903741; 26091538 Phenotypes for gene: TEAD1 were set to Sveinsson chorioretinal atrophy MIM#108985 Review for gene: TEAD1 was set to AMBER