Palmoplantar Keratoderma and Erythrokeratoderma
Gene: FAM111BEnsemblGeneIds (GRCh38): ENSG00000189057
EnsemblGeneIds (GRCh37): ENSG00000189057
OMIM: 615584, Gene2Phenotype
FAM111B is in 7 panels
1 review
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.
Sources: LiteratureCreated: 20 Apr 2022, 2:03 a.m.
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
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
- OMIM
- 615584
- Clinvar variants
- Variants in FAM111B
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fam111b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fam111b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: FAM111B was added gene: FAM111B was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAM111B were set to 24268661; 26471370; 26495788; 27406236 Phenotypes for gene: FAM111B were set to hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310 Mode of pathogenicity for gene: FAM111B was set to Other Review for gene: FAM111B was set to GREEN gene: FAM111B was marked as current diagnostic