INPP5K

inositol polyphosphate-5-phosphatase K
OMIM: 607875, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green INPP5K in Cataract Level 2: Ophthalmological disorders Version 0.373	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green INPP5K in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404
Green INPP5K in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.85 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green
Green INPP5K in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes congenital muscular dystrophy with cataracts and intellectual disability MONDO:0024607
Green INPP5K in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive
Amber INPP5K in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404
Green INPP5K in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive