Severe microcephaly
Gene: ATRXEnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 13 panels
3 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
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)
not always that dysmorphicCreated: 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
-
- NHS GMS
- 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
-
- Osteogenesis imperfecta
- Intellectual disability
- Rare anaemia
- IUGR and IGF abnormalities
- Differences in sex development
- Cytopenias and congenital anaemias
- Severe microcephaly
- Clefting
- Gastrointestinal neuromuscular disorders
- Fetal anomalies
- DDG2P
- Monogenic short stature
- Early onset or syndromic epilepsy
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ATRX.
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.
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)
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
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)
Added New Source
Rebecca Foulger (Genomics England curator)ATRX was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)ATRX was created by rfoulger