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  3. FAM111B
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Familial pulmonary fibrosis

Gene: FAM111B

Green List (high evidence)
FAM111B (family with sequence similarity 111 member B)
EnsemblGeneIds (GRCh38): ENSG00000189057
EnsemblGeneIds (GRCh37): ENSG00000189057
OMIM: 615584, Gene2Phenotype
FAM111B is in 5 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Sufficient variants reported fort this gene to be green
Created: 4 May 2017, 11:25 a.m.
Fourth autosomal variant reported in this gene to be associated with Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 615704
Created: 4 May 2017, 11:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 615704

Publications

Created: 4 May 2017, 11:23 a.m.

Panel version: 1.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 615704
OMIM
615584
Clinvar variants
Variants in FAM111B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

FAM111B was added to Familial pulmonary fibrosispanel. Sources: Literature

4 May 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FAM111B was created by sleigh