Skeletal dysplasia
Gene: RECQL4
Craniosynostosis syndrome gp of SD, Limb hypoplasia-reduction defects 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
Baller-Gerold syndrome 218600; RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400
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: RECQL4; 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, 1:08 p.m.
Tier 2Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Baller-Gerold syndrome 218600; RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: RECQL4 were changed from RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400; Baller-Gerold syndrome 218600 to Baller-Gerold syndrome, OMIM:218600; RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400
Added phenotypes RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400; Baller-Gerold syndrome 218600 for gene: RECQL4
Source NHS GMS was added to RECQL4. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for RECQL4 were set to Baller-Gerold syndrome 218600; RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400
Mode of inheritance for RECQL4 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for RECQL4 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
RECQL4 was added to Unexplained skeletal dysplasiapanel. Sources:
RECQL4 was created by sleigh