SLC12A6

solute carrier family 12 member 6
OMIM: 604878, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green SLC12A6 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.186 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068 Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000
Green SLC12A6 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY 218000
Green SLC12A6 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.508	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory UKGTN Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068 Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000
Red SLC12A6 in Monogenic hearing loss Level 2: Audiology Version 5.64 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Green SLC12A6 in Intellectual disability Level 2: Developmental disorders Version 9.375 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000
Green SLC12A6 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.45 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH UKGTN Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068 Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000