Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: INPP5K

Green List (high evidence)

INPP5K (inositol polyphosphate-5-phosphatase K)
EnsemblGeneIds (GRCh38): ENSG00000132376
EnsemblGeneIds (GRCh37): ENSG00000132376
OMIM: 607875, Gene2Phenotype
INPP5K is in 7 panels

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_manual . Main mutation mechanism : Missense and Loss of function
Created: 27 Jul 2017, 6:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Manual assessment of Genes of interest from literature searches and personal communication

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene was added to this panel due to new publications reporting missense variants in 13 families (PMID: 28190459; 28190456), and discussiom with Arianna Tucci to confirm whether it should be added to this panel.
Created: 23 Feb 2017, 5:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy; Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy
  • Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
OMIM
607875
Clinvar variants
Variants in INPP5K
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to INPP5K.

12 Mar 2018, Gel status: 3

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.

23 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

INPP5K was added to Intellectual disabilitypanel. Sources: Literature

23 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

INPP5K was created by ellenmcdonagh