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Genetic epilepsy syndromes

Gene: KPTN

Amber List (moderate evidence)

KPTN (kaptin, actin binding protein)
EnsemblGeneIds (GRCh38): ENSG00000118162
EnsemblGeneIds (GRCh37): ENSG00000118162
OMIM: 615620, Gene2Phenotype
KPTN is in 4 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

There are relatively few variants reported in this gene, but there appears to be a founder effect in the Amish community, where some of the affected individuals had a seizure disorder PMID 24239382.
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
Mental retardation 41, 615637

Publications

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: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Kept rating as Amber following evaluation of Green review by Zornitza. No further cases of KPTN variants associated with epilepsy/seizures are reported in the literature since PMID:24239382 (Baple et al., 2014: Founder effect in Amish community) and PMID:25847626 (Pajualu et al. 2015, 2 Estonian siblings with seizures in the brother). Although the association with ID is clearer, more epilepsy cases are required for a diagnostic-grade rating.
Created: 9 Jul 2019, 11:08 a.m. | Last Modified: 9 Jul 2019, 11:08 a.m.
Panel Version: 1.136

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note several additional LP/P variants submitted by clinical laboratories in ClinVar, although of course it is difficult to know whether seizures were part of the phenotype.
Created: 16 Aug 2018, 2:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 41, MIM#615637

Sarah Leigh (Genomics England Curator)

I don't know

Comment on list classification: Variants only reported in two families, seizures represent part of a variable phenotype in three individuals from the two families.
Created: 10 Apr 2018, 10:13 a.m.
Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as probable Gen2Phen gene. At least 3 variants reported in two families, seizures reported in 2 members of one family and in 1 member of the other family.
Created: 10 Apr 2018, 10:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 41615637

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Mental retardation, autosomal recessive 4,1615637
  • seizures
Tags
watchlist
OMIM
615620
Clinvar variants
Variants in KPTN
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 KPTN.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to KPTN.

9 Jul 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: KPTN were changed from Mental retardation, autosomal recessive 41615637 to Mental retardation, autosomal recessive 4,1615637; seizures

9 Jul 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

26 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

10 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

KPTN was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review

10 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

KPTN was created by Sarah Leigh