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Epileptic encephalopathy

Gene: ATRX

Green List (high evidence)

ATRX (ATRX, chromatin remodeler)
EnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 14 panels

5 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: After discussion with reviewer, this should be biallelic (recessive). This is also confirmed in gene2phenotype with a hemizygous mode of inheritance.
17 Dec 2015, 12:49 p.m.

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Where females manifest it would be due to x-skewing. Is this the right option?
12 Nov 2015, 1:50 p.m.

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
Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked

Publications

  • Gibbons et al (1995) Cell 80: 837-845
  • Stevenson et al (2000) Am J Med Genet 94: 383-385

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

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Where females manifest it would be due to x-skewing. Is this the right option?
12 Nov 2015, 1:13 p.m.

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
Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked

Publications

  • Gibbons et al (1995) Cell 80: 837-845
  • Stevenson et al (2000) Am J Med Genet 94: 383-385

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

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Where females manifest it would be due to x-skewing. Is this the right option?
12 Nov 2015, 1:04 p.m.

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
Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked

Publications

  • Gibbons et al (1995) Cell 80: 837-845
  • Stevenson et al (2000) Am J Med Genet 94: 383-385

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

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Where females manifest it would be due to x-skewing. Is this the right option?
12 Nov 2015, 12:26 p.m.

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
Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked

Publications

  • Gibbons et al (1995) Cell 80: 837-845
  • Stevenson et al (2000) Am J Med Genet 94: 383-385

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Alpha-thalassemia/mental retardation syndrome
  • Mental retardation-hypotonic facies syndrome, X-linked
OMIM
300032
Clinvar variants
Variants in ATRX
Penetrance
Complete
Publications
  • Gibbons et al (1995) Cell 80: 837-845
  • Stevenson et al (2000) Am J Med Genet 94: 383-385
Panels with this gene

History Filter Activity

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

17 Dec 2015, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ATRX were set to Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked

17 Dec 2015, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ATRX were set to Gibbons et al (1995) Cell 80: 837-845; Stevenson et al (2000) Am J Med Genet 94: 383-385

17 Dec 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

ATRX was added to Epileptic encephalopathypanel. Sources: 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)

ATRX was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATRX was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert