POP1

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

7 panels

Panel Reviews Mode of inheritance Details
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