Skeletal dysplasia

Gene: POP1

Green List (high evidence)

Metaphyseal dysplasia gp of SD - at least 3 cases reported; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anauxetic dysplasia 2, 617396

Publications

• 21455487
• 27380734
• 28067412

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: POP1; Initial rating suggestion: green

Created: 6 Mar 2019, 11:36 a.m.

Comment on list classification: Updated rating from Red to Green: Expert green review plus >3 unrelated cases supporting gene:disease association. Green rating agreed by Arianna Tucci.

Created: 11 May 2017, 12:52 p.m.

Comment on list classification: Updated rating from Red to Green: Expert green review plus >3 unrelated cases supporting gene:disease association. Green rating agreed by Arianna Tucci.

Created: 11 May 2017, 12:52 p.m.

Barraza-Garcia et al. (2017, PMID:28067412) report 2 cases: in a 4.6-year-old Moroccan girl with severe short stature and relatively mild skeletal dysplasia, they identified compound heterozygosity for the P582S variant and a 1-bp deletion in the POP1 gene. And in a 7-year-old Senegalese boy with suspected ANXD, Barraza-Garcia et al. identified homozygosity for a POP1 missense mutation (D511Y).

Created: 11 May 2017, 12:50 p.m.

In a 5-year-old Moroccan boy with ANXD2, Elalaoui et al. (2016, PMID:27380734) identified homozygosity for a missense mutation in the POP1 gene (P582S).

Created: 11 May 2017, 12:50 p.m.

PMID:21455487 (Glazov et al., 2011) report 2 sisters with anauxetic dysplasia and compound het POP1 mutations.

Created: 11 May 2017, 12:49 p.m.

Comment on phenotypes: Replaced 'Anauxetic dysplasia, 607095' with 'Anauxetic dysplasia 2, 617396' after OMIM update in March 2017.

Created: 4 May 2017, 2:57 p.m.

Comment when marking as ready: Not associated with phenotype in OMIM nor G2P. Two variants reported as compound heterozygotes in two sisters, each parent carrying one allele

Created: 29 Jul 2016, 1:01 p.m.

Comment on phenotypes: Phenotype is suggestive of Anauxetic dysplasia 607095

Created: 29 Jul 2016, 12:59 p.m.

Green List (high evidence)

Tier 1

Created: 17 Jun 2016, 8:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anauxetic dysplasia (OMIM 607095) - Glazov EA et al. Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.PLoS Genet. 2011 Mar, 7(3):e1002027. doi: 10.1371/journal.pgen.1002027

Variants in this GENE are reported as part of current diagnostic practice