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Fetal anomalies

Gene: POP1

Green List (high evidence)

POP1 (POP1 homolog, ribonuclease P/MRP subunit)
EnsemblGeneIds (GRCh38): ENSG00000104356
EnsemblGeneIds (GRCh37): ENSG00000104356
OMIM: 602486, Gene2Phenotype
POP1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability.

At least 4 unrelated families reported.
Created: 8 Dec 2019, 11:41 p.m. | Last Modified: 2 Feb 2022, 10:22 p.m.
Panel Version: 0.3123

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anauxetic dysplasia 2, MIM#617396

Publications

Details

Mode of Inheritance
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
OMIM
602486
Clinvar variants
Variants in POP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pop1 has been classified as Green List (High Evidence).

2 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POP1 were set to

2 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pop1 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POP1 was added gene: POP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2, OMIM:617396; Anauxetic dysplasia 2, MONDO:0054561