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Epileptic encephalopathy

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 12 panels

5 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Allan-Herndon-Dudley syndrome

Publications

  • Maranduba et al (2006) J Med Genet 43: 457_460

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Allan-Herndon-Dudley syndrome

Publications

  • Maranduba et al (2006) J Med Genet 43: 457_460

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Allan-Herndon-Dudley syndrome

Publications

  • Maranduba et al (2006) J Med Genet 43: 457_460

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Allan-Herndon-Dudley syndrome

Publications

  • Maranduba et al (2006) J Med Genet 43: 457 460

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed with reviewer.
29 Jan 2016, 5:16 p.m.
Comment on mode of inheritance: X-linked dominant in OMIM, hemizygous (X-linked recessive) in G2P.
29 Jan 2016, 2:46 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Allan-Herndon-Dudley syndrome
OMIM
300095
Clinvar variants
Variants in SLC16A2
Penetrance
Complete
Publications
  • Maranduba et al (2006) J Med Genet 43: 457_460
Panels with this gene

History Filter Activity

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC16A2 were set to Allan-Herndon-Dudley syndrome

29 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC16A2 were set to Maranduba et al (2006) J Med Genet 43: 457_460

29 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC16A2 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

29 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC16A2 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC16A2 was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC16A2 was added to Epileptic encephalopathypanel. Sources: UKGTN