Macrocephaly_Megalencephaly

Gene: KPTN

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

15 patients (9 from Amish families) reported with macrocephaly and intellectual disability with hom or chet variants in KPTN (PMID: 32808430).
Sources: Expert Review
Created: 2 Oct 2020, 7:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 41 (MIM#615637)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Mental retardation, autosomal recessive 41 (MIM#615637)
OMIM
615620
Clinvar variants
Variants in KPTN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kptn has been classified as Green List (High Evidence).

2 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kptn has been classified as Green List (High Evidence).

2 Oct 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KPTN was added gene: KPTN was added to Macrocephaly_Megalencephaly. Sources: Expert Review Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KPTN were set to 24239382; 32358097; 32808430 Phenotypes for gene: KPTN were set to Mental retardation, autosomal recessive 41 (MIM#615637) Review for gene: KPTN was set to GREEN