POLR1D

RNA polymerase I subunit D
OMIM: 613715, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green POLR1D in Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.14	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 2, MIM# 613717
Green POLR1D in Mendeliome Version 1.2511	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 2, MIM# 613717
Green POLR1D in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.309	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services 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 2 613717
Green POLR1D in Metaphyseal dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.5	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Treacher Collins syndrome 2 613717
Green POLR1D in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.264	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes TCS2 TREACHER COLLINS SYNDROME 2
Green POLR1D in Fetal anomalies Version 1.321	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Treacher Collins syndrome 2, MIM# 613717
Red POLR1D in Prepair 1000+ Level 2: Screening Version 2.7	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Treacher Collins syndrome 2 MIM#613717