Ectodermal dysplasia without a known gene mutation
Gene: KRT74

KRT74 (keratin 74)
EnsemblGeneIds (GRCh38): ENSG00000170484
EnsemblGeneIds (GRCh37): ENSG00000170484
OMIM: 608248, Gene2Phenotype
KRT74 is in 5 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Updated from biallelic to monoallelic inline with MOI on equivalent GMS panel (R163 Ectodermal dysplasia v3.0).

"This gene is Green on the Non-syndromic hypotrichosis panel (version 1.1, code 189) with a monoallelic mode of inheritance for Hypotrichosis. It has a Red rating with a biallelic mode of inheritance on the Ectodermal dysplasia without a known gene mutation panel (version 1.15, code 136), for Ectodermal dysplasia 7 due to one family report (PMID: 24714551). Therefore for the Green status, a monoallelic mode of inheritance is given here."
Created: 24 Jan 2024, 11:14 a.m. | Last Modified: 24 Jan 2024, 11:14 a.m.

Panel Version: 1.25

Created: 24 Jan 2024, 11:14 a.m.
Last Modified: 24 Jan 2024, 11:14 a.m.
Panel version: 1.25

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Only one variant reported in Ectodermal dysplasia 7, hair/nail type 614929
Created: 10 Aug 2016, 9:22 a.m.

Comment on phenotypes: Also associated with Hypotrichosis 3 613981 and Woolly hair, autosomal dominant 194300
Created: 10 Aug 2016, 9:21 a.m.

Created: 10 Aug 2016, 9:21 a.m.

Panel version: 0.100

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pure hair and nail ectodermal dysplasia (PHNED)

Publications

24714551

Created: 25 Jul 2016, 9:11 a.m.

Panel version: 0.91

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Literature

Phenotypes

Woolly hair, autosomal dominant, OMIM:194300 (AD)
?Hypotrichosis 3, OMIM:613981 (AD)
?Ectodermal dysplasia 7, hair/nail type, OMIM:614929 (AR)

OMIM

608248

Clinvar variants

Variants in KRT74

Penetrance

Complete

Publications

24714551

Panels with this gene

History Filter Activity

24 Jan 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KRT74 were changed from Pure hair and nail ectodermal dysplasia (PHNED) Ectodermal dysplasia 7, hair/nail type 614929 to Woolly hair, autosomal dominant, OMIM:194300 (AD); ?Hypotrichosis 3, OMIM:613981 (AD); ?Ectodermal dysplasia 7, hair/nail type, OMIM:614929 (AR)

24 Jan 2024, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: krt74 has been classified as Green List (High Evidence).

24 Jan 2024, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: KRT74 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

10 Aug 2016, Gel status: 1