Severe microcephaly

Gene: ATRX

Green List (high evidence)

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

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: X-linked dominant inheritance for Alpha-thalassemia/mental retardation syndrome, 301040 and X-linked recessive inheritance for Mental retardation-hypotonic facies syndrome, X-linked, 309580, both of which include Microcephaly. Therefore MOI recorded as 'XLD' as default.
Created: 9 Feb 2017, 9:35 a.m.
Confirmed DD-G2P gene for both Mental retardation-hypotonic facies syndrome, X-linked, 309580 and Alpha-thalassemia/mental retardation syndrome, 301040 (both of which can present with microcephaly).
Created: 7 Feb 2017, 10:13 a.m.
Comment on list classification: Updated rating from Red to Green: 1 Expert green review plus >3 cases of ATRX mutations causing both MIM:309580 and MIM:301040.
Created: 7 Feb 2017, 10:12 a.m.

emma baple (South West GMC)

Green List (high evidence)

not always that dysmorphic
Created: 6 Feb 2017, 5 p.m.

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Mental retardation-hypotonic facies syndrome, X-linked, 309580 (Microcephaly)
  • Alpha-thalassemia/mental retardation syndrome, 301040 (Microcephaly)
OMIM
300032
Clinvar variants
Variants in ATRX
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

9 Feb 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

7 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

7 Feb 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene ATRX were set to Mental retardation-hypotonic facies syndrome, X-linked, 309580 (Microcephaly); Alpha-thalassemia/mental retardation syndrome, 301040 (Microcephaly)

30 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ATRX was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other

30 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ATRX was created by rfoulger