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  3. ELP2
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Cerebral Palsy

Gene: ELP2

Green List (high evidence)
ELP2 (elongator acetyltransferase complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000134759
EnsemblGeneIds (GRCh37): ENSG00000134759
OMIM: 616054, Gene2Phenotype
ELP2 is in 5 panels

1 review

Luisa Weiss (University of Adelaide)

Green List (high evidence)

Nine patients in two different publications described as having biallelic ELP2 mutations and a form of ID syndrome with cerebral palsy as one neurological feature. For one patient symptom progression was described.
Sources: Literature
Created: 29 May 2023, 12:57 a.m. | Last Modified: 29 May 2023, 2:38 a.m.
Panel Version: 1.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder MIM#617270

Publications

Created: 29 May 2023, 12:57 a.m.
Last Modified: 29 May 2023, 2:38 a.m.
Panel version: 1.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder MIM#617270
OMIM
616054
Clinvar variants
Variants in ELP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: elp2 has been classified as Green List (High Evidence).

30 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: elp2 has been classified as Green List (High Evidence).

29 May 2023, Gel status: 0

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

Luisa Weiss (University of Adelaide)

gene: ELP2 was added gene: ELP2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ELP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELP2 were set to 25131622; 33976153 Phenotypes for gene: ELP2 were set to Intellectual developmental disorder MIM#617270 Review for gene: ELP2 was set to GREEN