Skeletal Dysplasia_Fetal
Gene: POP1EnsemblGeneIds (GRCh38): ENSG00000104356
EnsemblGeneIds (GRCh37): ENSG00000104356
OMIM: 602486, Gene2Phenotype
POP1 is in 7 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset.
Sources: Literature, Expert listCreated: 28 Sep 2022, 12:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anauxetic dysplasia 2, OMIM:617396; Anauxetic dysplasia 2, MONDO:0054561
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Literature
- Phenotypes
-
- Anauxetic dysplasia 2, OMIM:617396
- Anauxetic dysplasia 2, MONDO:0054561
- OMIM
- 602486
- Clinvar variants
- Variants in POP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pop1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pop1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: POP1 was added gene: POP1 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POP1 were set to 21455487; 27380734; 28067412 Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2, OMIM:617396; Anauxetic dysplasia 2, MONDO:0054561 Review for gene: POP1 was set to GREEN