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  3. ELP4
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Sporadic aniridia

Gene: ELP4

Red List (low evidence)
ELP4 (elongator acetyltransferase complex subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000109911
EnsemblGeneIds (GRCh37): ENSG00000109911
OMIM: 606985, Gene2Phenotype
ELP4 is in 2 panels

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Red List (low evidence)

A variant Identified in one boy, functional suggests that it affects an enhancer sequence 150kb downstream, resulting in defective maintenance of PAX6
Created: 20 Mar 2019, 5:02 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
?Aniridia 2 617141

Publications

Created: 20 Mar 2019, 5:02 p.m.

Panel version: 1.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • ?Aniridia 2, OMIM:617141
OMIM
606985
Clinvar variants
Variants in ELP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ELP4 were changed from ?Aniridia 2, 617141 to ?Aniridia 2, OMIM:617141

20 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ELP4 were changed from ?Aniridia 2, 617141; ?Aniridia 2 617141 to ?Aniridia 2, 617141

20 Mar 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to ELP4. Mode of inheritance for gene ELP4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes ?Aniridia 2 617141 for gene: ELP4

28 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on list classification

7 Jan 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: elp4 has been classified as Red List (Low Evidence).

7 Jan 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ELP4 were changed from ?Aniridia 2 to ?Aniridia 2, 617141

3 Jan 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source Radboud University Medical Center, Nijmegen was added to ELP4.

3 Jan 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: ELP4 were set to

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ELP4 was added gene: ELP4 was added to Aniridia. Sources: Other Mode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ELP4 were set to ?Aniridia 2