CWC27

CWC27 spliceosome associated protein homolog
OMIM: 617170, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber CWC27 in Cataract Level 2: Ophthalmological disorders Version 1.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410
Green CWC27 in Mendeliome Version 1.4851	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410
Green CWC27 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.780	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410
Green CWC27 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.444	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410
Green CWC27 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 0.246 Component of the following Super Panels: Retinal Disorders Superpanel	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa with or without skeletal anomalies, 250410
Green CWC27 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa with or without skeletal anomalies, 250410 (3), Autosomal recessive
Green CWC27 in Fetal anomalies Version 1.576	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410
Green CWC27 in Prepair 1000+ Level 2: Screening Version 2.17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410