Skeletal dysplasia
Gene: PTHLH
brachydactylies (without extraskeletal manifestations) gp of SD >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brachydactyly, type E2 613382
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: PTHLH; 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 2Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brachydactyly, type E2 613382
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Brachydactyly, type E2 613382 for gene: PTHLH
Source NHS GMS was added to PTHLH. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for PTHLH were set to Brachydactyly, type E2 613382
Mode of inheritance for PTHLH was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PTHLH was added to Unexplained skeletal dysplasiapanel. Sources:
PTHLH was created by sleigh