Genes in panel
Regions in panel
Prev Next

Mendeliome

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 8 families reported with features including intellectual disability, spastic diplegia, choreoathetosis, growth retardation and neuropsychiatric problems.
Created: 1 Apr 2022, 3:29 a.m. | Last Modified: 1 Apr 2022, 3:29 a.m.
Panel Version: 0.12397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual disability, autosomal recessive 58 MONDO:0014996

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • intellectual disability, autosomal recessive 58 MONDO:0014996
OMIM
616054
Clinvar variants
Variants in ELP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Apr 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ELP2 were changed from to intellectual disability, autosomal recessive 58 MONDO:0014996

1 Apr 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ELP2 were set to

1 Apr 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: ELP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ELP2 was added gene: ELP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ELP2 was set to Unknown