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  3. FAM83G
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: FAM83G

Red List (low evidence)
FAM83G (family with sequence similarity 83 member G)
EnsemblGeneIds (GRCh38): ENSG00000188522
EnsemblGeneIds (GRCh37): ENSG00000188522
OMIM: 615886, Gene2Phenotype
FAM83G is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related

Created: 16 Oct 2023, 7:43 a.m.
Last Modified: 16 Oct 2023, 7:43 a.m.
Panel version: 0.129

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 29138053;
- 2 siblings born of consanguineous family presented with palmoplantar keratoderma and exuberant curly scalp hair
- progressive development of yellowish thickened scaly skin affecting the palms and soles since 2 years of age, and toenail dystrophy in their teenage years
> homozygous for a missense p.(Ala34Glu)
Sources: Literature
Created: 12 Aug 2020, 3:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Palmoplantar keratoderma, curly scalp hair and toenail dystrophy

Publications

Created: 12 Aug 2020, 3:05 a.m.

Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related
OMIM
615886
Clinvar variants
Variants in FAM83G
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

16 Oct 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FAM83G were changed from Palmoplantar keratoderma, curly scalp hair and toenail dystrophy to Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related

12 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fam83g has been classified as Red List (Low Evidence).

12 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fam83g has been classified as Red List (Low Evidence).

12 Aug 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: FAM83G was added gene: FAM83G was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM83G were set to PMID: 29138053 Phenotypes for gene: FAM83G were set to Palmoplantar keratoderma, curly scalp hair and toenail dystrophy Penetrance for gene: FAM83G were set to unknown Review for gene: FAM83G was set to RED