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Intellectual disability

Gene: ARL14EP

Amber List (moderate evidence)

ARL14EP (ADP ribosylation factor like GTPase 14 effector protein)
EnsemblGeneIds (GRCh38): ENSG00000152219
EnsemblGeneIds (GRCh37): ENSG00000152219
OMIM: 612295, Gene2Phenotype
ARL14EP is in 2 panels

4 reviews

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Updated based on the latest reviews displayed here from the Intellectual disability update Oct 2017 panel.
Created: 29 Nov 2017, 3:56 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Sarah Leigh (Genomics England Curator)

I don't know

Not associated with phenotype in OMIM, but is a as a possible G2P gene. At least 1 variants reported. In the publication quoted by G2P the wrong gene is associated with C11orf46 (the former name of ARL14EP). TTI2 is mentioned which was formerly C8orf41. Authors of PMID 21937992 have been contacted for clarification
Created: 31 Oct 2017, 9:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
OMIM
612295
Clinvar variants
Variants in ARL14EP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

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: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

29 Nov 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to ARL14EP. Panel: Intellectual disability

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

Created

Ellen McDonagh (Genomics England Curator)

ARL14EP was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ARL14EP was added to Intellectual disabilitypanel. Sources: Expert Review Red