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  3. MATN4
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Early onset or syndromic epilepsy

Gene: MATN4

Red List (low evidence)
MATN4 (matrilin 4)
EnsemblGeneIds (GRCh38): ENSG00000124159
EnsemblGeneIds (GRCh37): ENSG00000124159
OMIM: 603897, Gene2Phenotype
MATN4 is in 1 panel

3 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: John Taylor and Helen Lord. 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
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)

Alzami et al, 2015 - 1 case with holoprosencephaly.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental delay

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. Identified as a candidate gene in PMID 25558065
Created: 26 Sep 2018, 3:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Global developmental delay, holoprosencephaly, microcephaly, lumbosacral myelomeningocele, epilepsy, proptosis, and diabetes insipidus

Publications

Created: 31 Jul 2018, 4:28 p.m.

Panel version: 0.302

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Red
  • Literature
Phenotypes
  • Global developmental delay, holoprosencephaly, microcephaly, lumbosacral myelomeningocele, epilepsy, proptosis, and diabetes insipidus
OMIM
603897
Clinvar variants
Variants in MATN4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MATN4.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MATN4.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

26 Sep 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: matn4 has been classified as Red List (Low Evidence).

31 Jul 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

MATN4 was added to Genetic Epilepsy Syndromes panel. Sources: Literature

31 Jul 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

MATN4 was created by Sarah Leigh