CTDP1

CTD phosphatase subunit 1
OMIM: 604927, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green CTDP1 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168 Tags deep intronic founder
Green CTDP1 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168 Tags deep intronic founder
Green CTDP1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CTDP1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green CTDP1 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.14 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168) Tags deep intronic founder
Red CTDP1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Congenital cataracts - facial dysmorphism - neuropathy
Green CTDP1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168 Tags deep intronic founder
Red CTDP1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital cataracts - facial dysmorphism - neuropathy