Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: KPTNEnsemblGeneIds (GRCh38): ENSG00000118162
EnsemblGeneIds (GRCh37): ENSG00000118162
OMIM: 615620, Gene2Phenotype
KPTN is in 5 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Four families were described with variants in KPTN and suspected craniosynostosis. Sagittal synostosis was confirmed in one individual from a family with three affected individuals. All families harboured a variant encoding p.Ser259*; this was homozygous in four individuals and in trans with another heterozygous variant (p.Met241_Gln246dup) in five individuals (PMID:24239382).
Sources: LiteratureCreated: 23 Jul 2023, 1:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder, autosomal recessive 41, OMIM:615637; craniosynostosis, MONDO:0015469
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Intellectual developmental disorder, autosomal recessive 41, OMIM:615637
- craniosynostosis, MONDO:0015469
- OMIM
- 615620
- Clinvar variants
- Variants in KPTN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: kptn has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: KPTN was added gene: KPTN was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KPTN were set to 24239382; 36980886 Phenotypes for gene: KPTN were set to Intellectual developmental disorder, autosomal recessive 41, OMIM:615637; craniosynostosis, MONDO:0015469 Review for gene: KPTN was set to AMBER