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Intellectual disability

Gene: KPTN

Green List (high evidence)

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

3 reviews

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES

Publications

Lu Raymond (university of cambridge )

Green List (high evidence)

emma baple (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES
OMIM
615620
Clinvar variants
Variants in KPTN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to KPTN.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KPTN was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KPTN was added to Intellectual disabilitypanel. Sources: Expert Review Green