Epidermolysis bullosa
Gene: FERMT1EnsemblGeneIds (GRCh38): ENSG00000101311
EnsemblGeneIds (GRCh37): ENSG00000101311
OMIM: 607900, Gene2Phenotype
FERMT1 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Kindler syndrome is an autosomal recessive dermatosis characterised by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. Well established gene-disease association.Created: 12 Feb 2021, 11:59 p.m. | Last Modified: 12 Feb 2021, 11:59 p.m.
Panel Version: 0.58
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kindler syndrome, MIM# 173650
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Kindler syndrome, MIM# 173650
- OMIM
- 607900
- Clinvar variants
- Variants in FERMT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fermt1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FERMT1 were changed from to Kindler syndrome, MIM# 173650
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FERMT1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FERMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FERMT1 was added gene: FERMT1 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FERMT1 was set to Unknown