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Genetic epilepsy syndromes

Gene: HCCS

Amber List (moderate evidence)

HCCS (holocytochrome c synthase)
EnsemblGeneIds (GRCh38): ENSG00000004961
EnsemblGeneIds (GRCh37): ENSG00000004961
OMIM: 300056, Gene2Phenotype
HCCS is in 16 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

This gene appears to be predominantly associated with micophthalmia/ocular abnormalities, athough there is a report of an association with MIDAS which can have infantile seizures as a feature, PMID 17033964.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Linear skin defects with multiple congenital anomalies, 309801

Publications

Ivone Leong (Genomics England Curator)

Comment when marking as ready: Despite seizures being listed as a common feature in GeneReviews, there is only 1 reported case of epilepsy with with HCCS gene. Therefore, it will remain as an amber gene. I have added the 'watchlist' tag.
Created: 3 Dec 2018, 10:34 a.m.
Comment when marking as ready: 'Linear skin defects with multiple congenital anomalies 1' confirmed in both OMIM and Gene2Phenotype and seizure is listed as a phenotype in both.
Neurological involvement is a feature of this disorder and seizures is listed as one of these in GeneReviews. However, only found one patient with a misssense variant in this gene had seizures (PMID: 17033964). This review (PMID: 30374660) states that seizures are a rare symptom in this disorder but mentions that patients with variants in HCCS has been reported to have seizures, they reference this article (PMID: 24735900). I have checked the article and could not find any mention of seizures or epilepsy.
Created: 14 Nov 2018, 1:43 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

XLD. Seizures are part of the phenotype of this multi-system disorder.
Created: 15 Aug 2018, 12:37 a.m.

Mode of inheritance
Other

Phenotypes
Linear skin defects with multiple congenital anomalies 1, MIM#309801

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Linear skin defects with multiple congenital anomalies 1, 309801
Tags
watchlist
OMIM
300056
Clinvar variants
Variants in HCCS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to HCCS.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to HCCS.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: XLD. Seizures are part of the

3 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

3 Dec 2018, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: HCCS.

14 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Nov 2018, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: HCCS were set to

14 Nov 2018, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: HCCS was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

14 Nov 2018, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, 309801

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to HCCS. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

HCCS was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

HCCS was created by Sarah Leigh