Pulmonary Fibrosis_Interstitial Lung Disease
Gene: FAM111BEnsemblGeneIds (GRCh38): ENSG00000189057
EnsemblGeneIds (GRCh37): ENSG00000189057
OMIM: 615584, Gene2Phenotype
FAM111B is in 7 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Bryony Thompson (Royal Melbourne Hospital)
>10 families/cases reported with fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. The condition is characterised by the skin findings of poikiloderma, hypohidrosis, hypotrichosis, mild lymphedema of the extremities, chronic erythematous and scaly skin lesions on the extremities, sclerosis of the digits, and mild palmoplantar keratoderma. Mechanism of disease is unknown, but is expected to be dominant-negative effect.Created: 20 Apr 2022, 1:42 a.m. | Last Modified: 20 Apr 2022, 1:42 a.m.
Panel Version: 0.13090
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 615584
- Clinvar variants
- Variants in FAM111B
- Penetrance
- None
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FAM111B was added gene: FAM111B was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAM111B was set to Unknown