SLC12A6

solute carrier family 12 member 6
OMIM: 604878, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green SLC12A6 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Andermann syndrome Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800 Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068
Green SLC12A6 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SLC12A6 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green SLC12A6 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.48 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Charcot-Marie-Tooth disease, axonal, type 2II (MIM#620068)
Green SLC12A6 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.14 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Andermann syndrome Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068
Green SLC12A6 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
Green SLC12A6 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Agenesis of the corpus callosum with peripheral neuropathy
Green SLC12A6 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000
Green SLC12A6 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
Red SLC12A6 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800
Green SLC12A6 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)