Retinal disorders

Gene: TEAD1

Green List (high evidence)

Comment on list classification: There are now more than 3 unrelated individuals of varied ancestry with heterozygous TEAD1 variants and retinal disease. There is good evidence of dominant segregation within pedigrees. Hence, TEAD1 should be promoted to Green at the next GMS update.

Created: 10 Mar 2026, 4:38 p.m. | Last Modified: 10 Mar 2026, 4:38 p.m.

Panel Version: 8.92

PMID: 15016762 Fossdal et al., 2004
TEAD1 (c.1261T>C, p.Tyr421His) variant identified as causal for first reported Icelandic pedigree with SCRA. Variant not in gnomAD v4.1.0.

PMID: 26091538 Schrauwen et al., 2015
Patient with a de novo TEAD1 variant NM_021961.5:c.618G>A; p.Trp206Ter and Aicardi syndrome (infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae). Variant not reported in gnomAD v4.1.0.

PMID: 33864784 Grubisa et al., 2021
Serbian family with Sveinsson's chorioretinal atrophy (affected father and 2 children, diagnosed at 45, 20, and 15 years old). TEAD1 sequencing revealed c.1261T>A, p.Tyr421Asn in TEAD1 - not present in gnomAD v4.1.0. Family first reported in PMID: 15359244.

PMID: 40984966 Murati Calderon et al., 2025
Report of a 61-year-old Hispanic female patient with clinical features consistent with Sveinsson chorioretinal atrophy (SCRA), including bilateral peripapillary chorioretinal atrophy and early macular involvement. Heterozygous for TEAD1 variant (c.599C>T; p.Ala200Val) - 29 heterozygotes reported in gnomAD v4.1.0. Used a retinal panel of 330 genes.

TEAD1 is linked to AD Sveinsson chorioretinal atrophy 108985 in OMIM (accessed 10th Mar 2026).

Created: 10 Mar 2026, 4:32 p.m. | Last Modified: 10 Mar 2026, 4:41 p.m.

Panel Version: 8.95

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Sveinsson chorioretinal atrophy, OMIM:108985; helicoid peripapillary chorioretinal degeneration, MONDO:0007176

Publications

• 15016762
• 26091538
• 33864784
• 40984966

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

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

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.