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Intellectual disability

Gene: INPP4A

Amber List (moderate evidence)

INPP4A (inositol polyphosphate-4-phosphatase type I A)
EnsemblGeneIds (GRCh38): ENSG00000040933
EnsemblGeneIds (GRCh37): ENSG00000040933
OMIM: 600916, Gene2Phenotype
INPP4A is in 2 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Upgraded from Red to Amber. 2 unrelated families with severe ID and biallelic variants in this gene reported to date (PMIDs: 25338135; 31978615)
Created: 30 Apr 2021, 3:44 p.m. | Last Modified: 30 Apr 2021, 3:44 p.m.
Panel Version: 3.1050

Zornitza Stark (Australian Genomics)

I don't know

Two families reported with bi-allelic variants and a neurological phenotype. Supportive mouse model and expression data.
Created: 16 Apr 2021, 9:27 a.m. | Last Modified: 16 Apr 2021, 9:27 a.m.
Panel Version: 3.1018

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Gene2Phenotype lists Autosomal Recessive Mental Retardation as a phenotype of variants in this gene, however there are no literature papers linking variants in this gene to Intellectual Disability, nor is there evidence in any of the 4 sources
Created: 31 Oct 2017, 10:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Seizures
OMIM
600916
Clinvar variants
Variants in INPP4A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Apr 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: INPP4A were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Intellectual disability; Seizures

30 Apr 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: INPP4A were set to 21937992

30 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: inpp4a has been classified as Amber List (Moderate Evidence).

12 Mar 2018, Gel status: 1

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.

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)

INPP4A was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

INPP4A was created by ellenmcdonagh