Muscular dystrophy and myopathy_Paediatric
Gene: INPP5KEnsemblGeneIds (GRCh38): ENSG00000132376
EnsemblGeneIds (GRCh37): ENSG00000132376
OMIM: 607875, Gene2Phenotype
INPP5K is in 7 panels
2 reviews
Ain Roesley (Victorian Clinical Genetics Services)
At least 20 probands reported thus far.
Noted that Val23Met is an Italian founder mutation and Ile50thr is a Pakistani/Bangladeshi founderCreated: 10 Jan 2022, 4:32 a.m. | Last Modified: 10 Jan 2022, 5:27 a.m.
Panel Version: 0.10573
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Muscular dystrophy gene. At least 12 families reported and two zebrafish models.Created: 10 Jun 2020, 1:10 a.m. | Last Modified: 10 Jun 2020, 1:10 a.m.
Panel Version: 0.130
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, with cataracts and intellectual disability, MIM# 617404
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 607875
- Clinvar variants
- Variants in INPP5K
- Penetrance
- None
- Panels with this gene
History Filter Activity
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 Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: INPP5K was set to Unknown