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| Retinal disorders v8.95 | TEAD1 |
Ida Ertmanska changed review comment from: 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. TEAD1 is linked to AD Sveinsson chorioretinal atrophy 108985 in OMIM (accessed 10th Mar 2026).; to: 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). |
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| Retinal disorders v8.95 | TEAD1 | Ida Ertmanska Phenotypes for gene: TEAD1 were changed from to Sveinsson chorioretinal atrophy, OMIM:108985; helicoid peripapillary chorioretinal degeneration, MONDO:0007176 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.94 | TEAD1 | Ida Ertmanska Publications for gene: TEAD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.93 | TEAD1 | Ida Ertmanska Mode of inheritance for gene: TEAD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.92 | TEAD1 | Ida Ertmanska Classified gene: TEAD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.92 | TEAD1 | Ida Ertmanska Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.92 | TEAD1 | Ida Ertmanska Gene: tead1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.91 | TEAD1 | Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: TEAD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.91 | TEAD1 | Ida Ertmanska reviewed gene: TEAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15016762, 26091538, 33864784, 40984966; Phenotypes: Sveinsson chorioretinal atrophy, OMIM:108985, helicoid peripapillary chorioretinal degeneration, MONDO:0007176; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.159 | TEAD1 | Gavin Arno reviewed gene: TEAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.137 | TEAD1 | Ivone Leong Source NHS GMS was added to TEAD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||