Skeletal dysplasia
Gene: POP1
Metaphyseal dysplasia gp of SD - at least 3 cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anauxetic dysplasia 2, 617396
Publications
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: greenCreated: 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 alleleCreated: 29 Jul 2016, 1:01 p.m.
Comment on phenotypes: Phenotype is suggestive of Anauxetic dysplasia 607095Created: 29 Jul 2016, 12:59 p.m.
Tier 1Created: 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
Added phenotypes Anauxetic dysplasia 2, 617396 for gene: POP1 Publications for gene POP1 were changed from 21455487; 27380734; 28067412 to 28067412; 21455487; 27380734
Source NHS GMS was added to POP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for POP1 were set to 21455487; 27380734; 28067412
Phenotypes for POP1 were set to Anauxetic dysplasia 2, 617396
Phenotypes for POP1 were set to Anauxetic dysplasia 607095
Publications for POP1 were set to 21455487
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
Publications for POP1 were set to 21437264
Phenotypes for POP1 were set to Anauxetic dysplasia 607095
Mode of inheritance for POP1 was changed to BIALLELIC, autosomal or pseudoautosomal
POP1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
POP1 was added to Unexplained skeletal dysplasiapanel. Sources:
POP1 was created by sleigh