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Fetal anomalies

Gene: KPTN

Amber List (moderate evidence)

KPTN (kaptin, actin binding protein)
EnsemblGeneIds (GRCh38): ENSG00000118162
EnsemblGeneIds (GRCh37): ENSG00000118162
OMIM: 615620, Gene2Phenotype
KPTN is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES
OMIM
615620
Clinvar variants
Variants in KPTN
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: KPTN was added gene: KPTN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KPTN were set to MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES