POLR1C

RNA polymerase I subunit C
OMIM: 610060, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red POLR1C in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.8	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Leukodystrophy, hypomyelinating, 11, OMIM#616494
Green POLR1C in Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.12	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 3, MIM# 248390
Green POLR1C in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 3, MIM# 248390 Leukodystrophy, hypomyelinating, 11, MIM# 616494
Green POLR1C 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 Expert list Phenotypes Leukodystrophy, hypomyelinating, 11, MIM# 616494
Green POLR1C in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 3 248390
Green POLR1C in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukodystrophy, hypomyelinating, 11, MIM# 616494
Green POLR1C in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.143 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 11, MIM# 616494
Green POLR1C 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 Treacher Collins syndrome 3, 248390 (3)
Green POLR1C in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes TREACHER COLLINS SYNDROME 3 TCS3
Green POLR1C in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Treacher Collins syndrome 3, MIM# 248390
Green POLR1C in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 11 MIM#616494 Treacher Collins syndrome 3 MIM#248390
Green POLR1C in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Treacher Collins syndrome 3, 248390 (3)