Skeletal dysplasia
Gene: MAFB
Osteolysis gp of SD. Also mutated in Duane retraction syndrome 3 - 617041.Multicentric carpotarsal osteolysis syndrome 166300 - at least 3 cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Multicentric carpotarsal osteolysis syndrome 166300
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: MAFB; 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, 12:57 p.m.
Tier 3Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Multicentric carpotarsal osteolysis syndrome 166300
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Multicentric carpotarsal osteolysis syndrome 166300 for gene: MAFB Publications for gene MAFB were changed from to 2387013; 30305815; 30430035
Source NHS GMS was added to MAFB. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for MAFB were set to Multicentric carpotarsal osteolysis syndrome 166300
Mode of inheritance for MAFB was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
MAFB was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
MAFB was added to Unexplained skeletal dysplasiapanel. Sources:
MAFB was created by sleigh