PCYT1A

phosphate cytidylyltransferase 1A, choline
OMIM: 123695, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber PCYT1A in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Lipodystrophy, congenital generalized, type 5, MIM# 620680
Green PCYT1A in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940 Lipodystrophy, congenital generalized, type 5, MIM# 620680
Green PCYT1A in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Radboud University Medical Center, Nijmegen NHS GMS Victorian Clinical Genetics Services Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
Amber PCYT1A in Monogenic Diabetes Level 2: Endocrine disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Lipodystrophy, congenital generalized, type 5, MIM# 620680
Green PCYT1A in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940
Green PCYT1A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
Red PCYT1A in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940
Green PCYT1A in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940