Hereditary spastic paraplegia - adult onset

Gene: SLC16A2

Green List (high evidence)

SLC16A2 (solute carrier family 16 member 2)
EnsemblGeneIds (GRCh38): ENSG00000147100
EnsemblGeneIds (GRCh37): ENSG00000147100
OMIM: 300095, Gene2Phenotype
SLC16A2 is in 14 panels

4 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Childhood onset.
Created: 22 Sep 2020, 5:18 a.m. | Last Modified: 22 Sep 2020, 5:18 a.m.
Panel Version: 1.7

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Childhood onset, with features of spasticity. No additional patients identified using Sheffield panel. No reports of adult onset.
Created: 10 May 2019, 9:27 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Several publications in unrelated families with spasticity as clinicsl feature. In sheffields HSP panel. Victoria: GREEN
Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Allan-Herndon-Dudley syndrome, 300523, XL

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SLC16A2 were set to

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SLC16A2.

25 Apr 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SLC16A2. Mode of inheritance for gene SLC16A2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Allan-Herndon-Dudley syndrome, 300523, XL for gene: SLC16A2 Rating Changed from Red List (low evidence) to Green List (high evidence)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC16A2.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SLC16A2 was added gene: SLC16A2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SLC16A2 was set to