POP1

POP1 homolog, ribonuclease P/MRP subunit
OMIM: 602486, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green POP1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.230	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Phenotypes Anauxetic dysplasia 2, OMIM:617396 Anauxetic dysplasia 2, MONDO:0054561
Green POP1 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anauxetic dysplasia 2, OMIM:617396 Anauxetic dysplasia 2, MONDO:0054561
Red POP1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Anauxetic dysplasia 2, MIM#617396
Green POP1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list NHS GMS Victorian Clinical Genetics Services Phenotypes Anauxetic dysplasia 2, 617396
Green POP1 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 Anauxetic dysplasia 2, 617396 (3), Autosomal recessive
Green POP1 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Anauxetic dysplasia 2, OMIM:617396 Anauxetic dysplasia 2, MONDO:0054561
Green POP1 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Anauxetic dysplasia 2, MIM#617396