Ichthyosis

Gene: FLG2

Green List (high evidence)

FLG2 (filaggrin family member 2)
EnsemblGeneIds (GRCh38): ENSG00000143520
EnsemblGeneIds (GRCh37): ENSG00000143520
OMIM: 616284, Gene2Phenotype
FLG2 is in 3 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

3 unrelated families reported
Sources: Literature
Created: 23 Dec 2019, 4:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peeling skin syndrome 6, MIM# 618084

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 6, MIM# 618084
OMIM
616284
Clinvar variants
Variants in FLG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: flg2 has been classified as Green List (High Evidence).

23 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: flg2 has been classified as Green List (High Evidence).

23 Dec 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Belinda Chong (Victorian Clinical Genetics Services)

gene: FLG2 was added gene: FLG2 was added to Ichthyosis_VCGS. Sources: Literature Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLG2 were set to 29758285; 28884927; 29505760 Phenotypes for gene: FLG2 were set to Peeling skin syndrome 6, MIM# 618084 Review for gene: FLG2 was set to GREEN