Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: INPP4A

Red List (low evidence)

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

3 reviews

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 Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
OMIM
600916
Clinvar variants
Variants in INPP4A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

Created

Ellen McDonagh (Genomics England Curator)

INPP4A was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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