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Severe Paediatric Disorders

Gene: SLC12A6

Green List (high evidence)

SLC12A6 (solute carrier family 12 member 6)
EnsemblGeneIds (GRCh38): ENSG00000140199
EnsemblGeneIds (GRCh37): ENSG00000140199
OMIM: 604878, Gene2Phenotype
SLC12A6 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

For-review tag has been added as it maybe appropriate to change the MOI to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified.
Created: 13 Jul 2020, 3:34 p.m. | Last Modified: 13 Jul 2020, 3:34 p.m.
Panel Version: 1.7
Associated with Agenesis of the corpus callosum with peripheral neuropathy 218000 in OMIM and as confirmed Gen2Phen gene. At least 10 biallelic variants were reported in at least 10 unrelated cases. 9/10 of these variants was terminating (PMID 12368912, 16606917, 17893295). Three de novo heterozygous missense variants have been identified in four unrelated cases with a milder phenotype of early- onset progressive Charcot- Marie-tooth disease (CMT) with or without spasticity (intermediate CMT)(PMID 31439721, 27485015). The authors of PMID 31439721 suggest that "autosomal- dominant inheritance of SLC12A6 variants also needs to be considered in patients with early- onset neuropathies". Furthermore, it will be important to understand the functional differences between the variants, as PMID 27485015 reported variant - p.Thr991Ala, resulted in increased potassium influx in Xenopus oocytes (gain-of-function), while the other missense variants identified so far had a loss-of-function effect in varying degrees (PMID 31439721).
Created: 13 Jul 2020, 3:33 p.m. | Last Modified: 13 Jul 2020, 3:33 p.m.
Panel Version: 1.7

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SLC12A6; Recommended initial gene rating: Green List (high evidence); Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Agenesis of the corpus callosum with peripheral neuropathy, 218000
Tags
for-review
OMIM
604878
Clinvar variants
Variants in SLC12A6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jul 2020, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC12A6 were set to 30847515

13 Jul 2020, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: SLC12A6.

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SLC12A6 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 for gene: SLC12A6

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 for gene: SLC12A6

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 for gene: SLC12A6

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 for gene: SLC12A6

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SLC12A6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 for gene: SLC12A6

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SLC12A6.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SLC12A6. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SLC12A6 was added gene: SLC12A6 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC12A6 was set to