Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Additional findings_Paediatric

Gene: KPTN

Red List (low evidence)

KPTN (kaptin, actin binding protein)
EnsemblGeneIds (GRCh38): ENSG00000118162
EnsemblGeneIds (GRCh37): ENSG00000118162
OMIM: 615620, Gene2Phenotype
KPTN is in 9 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Macrocephaly, neurodevelopmental delay, and seizures
OMIM
615620
Clinvar variants
Variants in KPTN
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KPTN was added gene: KPTN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red 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