KPTN

kaptin, actin binding protein
OMIM: 615620, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber KPTN in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Intellectual developmental disorder, autosomal recessive 41, OMIM:615637 macrocephaly-developmental delay syndrome, MONDO:0014289
Amber KPTN in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 4.180 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal recessive 41, OMIM:615637 craniosynostosis, MONDO:0015469
Green KPTN in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES
Green KPTN in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Expert Review Phenotypes Intellectual developmental disorder, autosomal recessive 41, OMIM:615637 macrocephaly-developmental delay syndrome, MONDO:0014289
Green KPTN in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 41, OMIM:615637 macrocephaly-developmental delay syndrome, MONDO:0014289
Green KPTN in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Intellectual developmental disorder, autosomal recessive 41, OMIM:615637 macrocephaly-developmental delay syndrome, MONDO:0014289