SLC9A6

solute carrier family 9 member A6
OMIM: 300231, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green SLC9A6 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.41 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142
Green SLC9A6 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.36 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142
Green SLC9A6 in Angelman Rett like syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.11	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 MONDO:0010278
Amber SLC9A6 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.419 Component of the following Super Panels: Neuromuscular Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Christianson type, MIM# 300243
Green SLC9A6 in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.207	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SLC9A6 in Mendeliome Version 1.2655	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked syndromic, Christianson type MIM#300243 Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142
Green SLC9A6 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.316	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Christianson type, MIM# 300243
Green SLC9A6 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.157 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 MONDO:0010278
Green SLC9A6 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.581	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SLC9A6 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.174	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 MONDO:0010278
Green SLC9A6 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.38 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243
Green SLC9A6 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, X-linked syndromic, Christianson type
Green SLC9A6 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Christianson syndrome
Green SLC9A6 in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 1.10	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Mental retardation, X-linked syndromic, Christianson type, MIM# 300243
Red SLC9A6 in Fetal anomalies Version 1.370	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 MONDO:0010278
Green SLC9A6 in Prepair 1000+ Level 2: Screening Version 2.13	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic, Christianson type MIM#300243
Red SLC9A6 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.121	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Mental retardation, X-linked syndromic, Christianson type, MIM# 300243