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Intellectual disability

Gene: ELP2

Green List (high evidence)

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

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 2:58 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Three families reported in PMID 21937992 and 25847581. Linked to mental retardation in OMIM. Possible DD gene in Gene2Phenotype.
Created: 27 Oct 2017, 2:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 58 617270

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Mental retardation, autosomal recessive 58 617270
OMIM
616054
Clinvar variants
Variants in ELP2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 4

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to ELP2. Panel: Intellectual disability Publications for gene ELP2 was set to ['21937992', '25847581']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ELP2 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ELP2 was created by ellenmcdonagh