Arthrogryposis
Gene: FAM111BEnsemblGeneIds (GRCh38): ENSG00000189057
EnsemblGeneIds (GRCh37): ENSG00000189057
OMIM: 615584, Gene2Phenotype
FAM111B is in 5 panels
1 review
Alice Gardham (Genomics England)
Acquired rather than congenital contracturesCreated: 4 Jan 2017, 3:48 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 615704
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 (3)
- OMIM
- 615584
- Clinvar variants
- Variants in FAM111B
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set publications
Alice Gardham (Genomics England)Publications for FAM111B were set to 24268661
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for FAM111B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)FAM111B was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)FAM111B was created by ellenmcdonagh