Skeletal dysplasia
Gene: PYCR1
OI and decreasing bone density gp of SD - >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIB 612940; Cutis laxa, autosomal recessive, type IIIB 614438
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: PYCR1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:03 p.m.
Tier 3Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIB 612940; Cutis laxa, autosomal recessive, type IIIB 614438
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Cutis laxa, autosomal recessive, type IIB 612940; Cutis laxa, autosomal recessive, type IIIB 614438 for gene: PYCR1
Source NHS GMS was added to PYCR1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for PYCR1 were set to Cutis laxa, autosomal recessive, type IIB 612940; Cutis laxa, autosomal recessive, type IIIB 614438
Mode of inheritance for PYCR1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PYCR1 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory PYCR1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red
PYCR1 was added to Unexplained skeletal dysplasiapanel. Sources:
PYCR1 was created by sleigh