Clefting
Gene: ATRX
ATRX (ATRX, chromatin remodeler)
EnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 13 panels
1 review
Ellen McDonagh (Genomics England Curator)
Clefting not included within the OMIM clinical synopsis for this disorder, and not found in descriptions of associated diseases in Orphanet or Gene2Phenotype. One paper that mentions cleft palate in twin males with Smith-Fineman-Myers syndrome, but genetic diagnosis not mentioned.Created: 31 May 2017, 1:52 p.m.
Phenotypes
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
Publications
Details
- Sources
-
- Expert Review Red
- Phenotypes
-
- MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
- MRXHF1
- OMIM
- 300032
- Clinvar variants
- Variants in ATRX
- Penetrance
- Complete
- Publications
- Panels with this gene
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- Cytopenias and congenital anaemias
- Early onset or syndromic epilepsy
- DDG2P
- IUGR and IGF abnormalities
- Rare anaemia
- Gastrointestinal neuromuscular disorders
- Intellectual disability
- Fetal anomalies
- Differences in sex development
- Severe microcephaly
- Monogenic short stature
- Osteogenesis imperfecta
- Clefting
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ATRX was added to Cleftingpanel. Sources: Expert Review Red
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ATRX was created by ellenmcdonagh