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Ectodermal Dysplasia

Gene: KRT74

Red List (low evidence)
KRT74 (keratin 74)
EnsemblGeneIds (GRCh38): ENSG00000170484
EnsemblGeneIds (GRCh37): ENSG00000170484
OMIM: 608248, Gene2Phenotype
KRT74 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variant is present in 120 homozygotes in gnomad.
Created: 9 Mar 2022, 8:12 a.m. | Last Modified: 9 Mar 2022, 8:12 a.m.
Panel Version: 0.66

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia 7, hair/nail type MIM#614929

Created: 9 Mar 2022, 8:12 a.m.
Last Modified: 9 Mar 2022, 8:12 a.m.
Panel version: 0.66

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Homozygous variant segregates in a consanguineous Pakastani family and loss of keratin-74 expression in hair follicles of affected individuals.
Created: 11 Mar 2020, 8:47 a.m. | Last Modified: 11 Mar 2020, 8:47 a.m.
Panel Version: 0.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ectodermal dysplasia 7, hair/nail type MIM#614929

Publications

Created: 11 Mar 2020, 8:47 a.m.
Last Modified: 11 Mar 2020, 8:47 a.m.
Panel version: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • ?Ectodermal dysplasia 7, hair/nail type, 614929
OMIM
608248
Clinvar variants
Variants in KRT74
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt74 has been classified as Red List (Low Evidence).

9 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt74 has been classified as Red List (Low Evidence).

11 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: krt74 has been classified as Amber List (Moderate Evidence).

14 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KRT74 was added gene: KRT74 was added to Ectodermal Dysplasia_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: KRT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KRT74 were set to 24714551 Phenotypes for gene: KRT74 were set to ?Ectodermal dysplasia 7, hair/nail type, 614929