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  2. Intellectual disability syndromic and non-syndromic
  3. INPP5K
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Intellectual disability syndromic and non-syndromic

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

ID is a feature of this condition - severity of ID ranges between mild to severe in affected individuals.
Created: 26 Sep 2024, 6:41 a.m. | Last Modified: 26 Sep 2024, 6:41 a.m.
Panel Version: 0.6249

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital muscular dystrophy with cataracts and intellectual disability MONDO:0024607

Publications

Created: 26 Sep 2024, 6:41 a.m.
Last Modified: 26 Sep 2024, 6:41 a.m.
Panel version: 0.6249

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • congenital muscular dystrophy with cataracts and intellectual disability MONDO:0024607
OMIM
607875
Clinvar variants
Variants in INPP5K
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: inpp5k has been classified as Green List (High Evidence).

15 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: INPP5K were changed from to congenital muscular dystrophy with cataracts and intellectual disability MONDO:0024607

15 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: INPP5K were set to

15 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: INPP5K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: INPP5K was added gene: INPP5K was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: INPP5K was set to Unknown