Skeletal dysplasia
Gene: PIGV
Brachydactylies (with extraskeletal manifestations) gp of SD - at least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphosphatasia with mental retardation syndrome 1 239300
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: PIGV; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 12 Jul 2016, 11:20 a.m.
Tier 3Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperphosphatasia with mental retardation syndrome 1 239300
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Hyperphosphatasia with mental retardation syndrome 1 239300 for gene: PIGV
Source NHS GMS was added to PIGV. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for PIGV were set to Hyperphosphatasia with mental retardation syndrome 1 239300
Mode of inheritance for PIGV was changed to BIALLELIC, autosomal or pseudoautosomal
PIGV was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
PIGV was added to Unexplained skeletal dysplasiapanel. Sources:
PIGV was created by sleigh