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Intellectual disability syndromic and non-syndromic

Gene: ETS1

Red List (low evidence)

ETS1 (ETS proto-oncogene 1, transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000134954
EnsemblGeneIds (GRCh37): ENSG00000134954
OMIM: 164720, Gene2Phenotype
ETS1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual with de novo truncating variant in this gene; gene is Jacobsen syndrome critical region.
Sources: Literature
Created: 12 Dec 2019, 2:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, ETS1-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, ETS1-related
OMIM
164720
Clinvar variants
Variants in ETS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ETS1 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ETS1-related

12 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ets1 has been classified as Red List (Low Evidence).

12 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ETS1 was added gene: ETS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: ETS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ETS1 were set to 31160359 Phenotypes for gene: ETS1 were set to Intellectual disability Review for gene: ETS1 was set to RED