KIDINS220

kinase D interacting substrate 220
OMIM: 615759, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green KIDINS220 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ventriculomegaly and arthrogryposis, MIM# 619501 cerebral ventriculomegaly limb contractures
Green KIDINS220 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert list Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity - #617296 Ventriculomegaly and arthrogryposis - #619501
Green KIDINS220 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.127	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ventriculomegaly and arthrogryposis, MIM# 619501 cerebral ventriculomegaly limb contractures
Green KIDINS220 in Mendeliome Version 1.2302	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296 Ventriculomegaly and arthrogryposis, MIM# 619501
Green KIDINS220 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296 MONDO:0015007
Green KIDINS220 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.86 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296 MONDO:0015007
Green KIDINS220 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296 cerebral ventriculomegaly limb contractures spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007
Green KIDINS220 in Severe early-onset obesity Level 2: Endocrine disorders Version 1.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296