KIDINS220

kinase D interacting substrate 220
OMIM: 615759, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green KIDINS220 in Severe early-onset obesity Level 2: Endocrinology Version 5.21 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
Green KIDINS220 in Hydrocephalus Level 2: Neurology Version 5.8 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ventriculomegaly and arthrogryposis, OMIM:619501
Green KIDINS220 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296
Green KIDINS220 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ventriculomegaly and arthrogryposis, OMIM:619501
Green KIDINS220 in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Other Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
Amber KIDINS220 in Adult onset hereditary spastic paraplegia Level 2: Neurology Version 6.7 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
Red KIDINS220 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296
Green KIDINS220 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS PAGE DD-Gene2Phenotype Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296 cerebral ventriculomegaly limb contractures
Green KIDINS220 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity.
Green KIDINS220 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296