PIP5K1C

phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
OMIM: 606102, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green PIP5K1C in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lethal congenital contractural syndrome 3, MIM# 611369
Green PIP5K1C in Mendeliome Version 1.2302	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related Lethal congenital contractural syndrome 3, MIM# 611369
Green PIP5K1C in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.295	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related
Green PIP5K1C in Multiple pterygium syndrome_Fetal akinesia sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 1.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Lethal congenital contractural syndrome 3, MIM# 611369
Green PIP5K1C in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related
Green PIP5K1C in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related
Red PIP5K1C in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Lethal congenital contractural syndrome 3, 611369 (3)
Green PIP5K1C in Fetal anomalies Version 1.313	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Lethal congenital contractural syndrome 3 - #611369
Amber PIP5K1C in Prepair 1000+ Level 2: Screening Version 1.1566	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Lethal congenital contractural syndrome 3, 611369 (3)