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  3. KRT8
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Pancreatitis

Gene: KRT8

Amber List (moderate evidence)
KRT8 (keratin 8)
EnsemblGeneIds (GRCh38): ENSG00000170421
EnsemblGeneIds (GRCh37): ENSG00000170421
OMIM: 148060, Gene2Phenotype
KRT8 is in 1 panel

2 reviews

Miranda Durkie (Genetics)

Xiao et al J Pediatr. 2017 Dec;191:158-163.e3: Found in 1 Chinese child with acute recurrent pancreatitis/chronic pancreatitis
Sofia et al Mol Med. 2016 Sep;22:300-309 found in 2 patients with idiopathic chronic pancreatitis presenting within first 3 decades of life
Little evidence keep as amber
Created: 10 May 2019, 1:47 p.m.
Created: 10 May 2019, 1:47 p.m.

Panel version: 1.7

Ivone Leong (Genomics England Curator)

I don't know

Comment on list classification: Promoted from red to amber based on expert review submitted by Miranda Durkie (Genetics).
Created: 13 May 2019, 2:43 p.m.
Comment on publications: PMID: 29173301 refers to Xiao et al J Pediatr. 2017 Dec;191:158-163.
PMID: 27264265 refers to Sofia et al Mol Med. 2016 Sep;22:300-309.
Created: 10 May 2019, 2:18 p.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: KRT8; Suggested intial gene rating: Amber; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 4:15 p.m.
Created: 7 Jan 2019, 4:15 p.m.

Panel version: 1.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
OMIM
148060
Clinvar variants
Variants in KRT8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: krt8 has been classified as Amber List (Moderate Evidence).

13 May 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: KRT8 was changed from to BIALLELIC, autosomal or pseudoautosomal

10 May 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: KRT8 were set to

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: KRT8 was added gene: KRT8 was added to Pancreatitis. Sources: NHS GMS Mode of inheritance for gene: KRT8 was set to