Iron metabolism disorders

Gene: HEPH

Amber List (moderate evidence)

HEPH (hephaestin)
EnsemblGeneIds (GRCh38): ENSG00000089472
EnsemblGeneIds (GRCh37): ENSG00000089472
OMIM: 300167, Gene2Phenotype
HEPH is in 2 panels

6 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Mouse models only, cannot find reports of variants in humans associated with disease.
Created: 22 Jan 2021, 8:01 a.m. | Last Modified: 22 Jan 2021, 8:01 a.m.
Panel Version: 1.4

Phenotypes
Iron metabolism defect

Publications

PATRICIA BIGNELL (Oxford Hospitals NHS Foundation Trust)

I don't know

Steve Keeney (Central Manchester Foundation Trust)

Green List (high evidence)

Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.
Created: 18 Feb 2019, 11:45 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.
Created: 13 Feb 2019, 12:36 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.

Discrepant reviews, to be discussed at July workshop to agree rating.
Created: 22 Jul 2019, 3:11 p.m. | Last Modified: 22 Jul 2019, 3:11 p.m.
Panel Version: 0.46
Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber
Created: 28 May 2019, 2:08 p.m.
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HEPH; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Not submitted; PMID(s): none submitted
Created: 18 Feb 2019, 11:49 a.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HEPH; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: N/A; PMID(s): none submitted
Created: 13 Feb 2019, 12:39 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HEPH; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: none submitted; PMID(s): none submitted
Created: 5 Feb 2019, 5:51 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 5 Feb 2019, 5:50 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • North West GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
OMIM
300167
Clinvar variants
Variants in HEPH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: HEPH were set to

22 Jul 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

18 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to HEPH.

13 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to HEPH.

5 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HEPH.

5 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to HEPH. Mode of inheritance for gene HEPH was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: HEPH was added gene: HEPH was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HEPH was set to