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Ectodermal dysplasia without a known gene mutation

Gene: KRT85

Green List (high evidence)
KRT85 (keratin 85)
EnsemblGeneIds (GRCh38): ENSG00000135443
EnsemblGeneIds (GRCh37): ENSG00000135443
OMIM: 602767, Gene2Phenotype
KRT85 is in 2 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Phenotypes
Ectodermal dysplasia, pure hair and nail type

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Source: publications and OMIM.
Created: 25 Jul 2016, 9:21 a.m.
Comment on list classification: Promoted from red to green due to expert review and 3 family reports.
Created: 25 Jul 2016, 9:21 a.m.
Created: 25 Jul 2016, 9:21 a.m.

Panel version: 0.96

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ectodermal dysplasia 4, hair/nail type, 602032
  • Ectodermal dysplasia, pure hair and nail type
OMIM
602767
Clinvar variants
Variants in KRT85
Penetrance
Complete
Publications
  • 16525032 (a homozygous variant identified in a large kindred of Pakistani origin)
  • 19865094 (2 different homozygous variants reported in two consanguineous Pakistani families - one variant was the same as identified in PMID:16525032).
Panels with this gene

History Filter Activity

10 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 10th August 2016

25 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Jul 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for KRT85 was changed to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Jul 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KRT85 were set to 16525032 (a homozygous variant identified in a large kindred of Pakistani origin); 19865094 (2 different homozygous variants reported in two consanguineous Pakistani families - one variant was the same as identified in PMID:16525032).

25 Jul 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KRT85 were set to 16525032 (a homozygous variant identified in a large kindred of Pakistani origin); 19865094 (2 different homozygous variants reported in two consanguineous Pakistani families).

25 Jul 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for KRT85 were set to Ectodermal dysplasia 4, hair/nail type, 602032; Ectodermal dysplasia, pure hair and nail type

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT85 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen