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Structural eye disease

Gene: ELP4

Red List (low evidence)

ELP4 (elongator acetyltransferase complex subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000109911
EnsemblGeneIds (GRCh37): ENSG00000109911
OMIM: 606985, Gene2Phenotype
ELP4 is in 3 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

Bhatia: 1 family. Sannan: 4 families with deletion of ELP4. More families reported with deletions or intronic variants - however, as this gene is located close to PAX6 these variants are likely to affect PAX6 regulation rather than ELP4
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ANIRIDIA 2; 617141

Publications

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Bhatia: 1 family. Sannan: 4 families with deletion of ELP4. More families reported with deletions or intronic variants - however, as this gene is located close to PAX6 these variants are likely to affect PAX6 regulation rather than ELP4
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ANIRIDIA 2, 617141

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • ANIRIDIA 2, 617141
  • ?Aniridia 2
OMIM
606985
Clinvar variants
Variants in ELP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ELP4. Added phenotypes ANIRIDIA 2, 617141 for gene: ELP4 Publications for gene ELP4 were changed from 24290376 to 24290376; 29217025

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ELP4 was added gene: ELP4 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELP4 were set to 24290376 Phenotypes for gene: ELP4 were set to ?Aniridia 2