KIAA1161

myogenesis regulating glycosidase (putative)
Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green KIAA1161 in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317 Tags gene-checked new-gene-name
Green KIAA1161 in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.39	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Autosomal Recessive Primary Familial Brain Calcification Basal ganglia calcification, idiopathic, 7, autosomal recessive Calcifications in the basal ganglia Tags new-gene-name gene-checked
Green KIAA1161 in Intracerebral calcification disorders Level 3: Parenchymal brain disorders Level 2: Neurology and neurodevelopmental disorders Version 1.35	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Primary Familial Brain Calcification Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317 Tags new-gene-name gene-checked
Green KIAA1161 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317 Tags new-gene-name gene-checked
Green KIAA1161 in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317 Tags new-gene-name gene-checked