|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ATRX germline variations are responsible for the rare genetic disorder X-linked alpha-thalassemia mental retardation (ATR-X) syndrome characterized by severe developmental delay and alpha-thalassemia but no obvious increased risk of cancer.
|
29706636 |
2018 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein.
|
14990586 |
2004 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.
|
8968741 |
1996 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is caused by mutations in ATRX, which encodes a chromatin-remodeling protein.
|
29785027 |
2018 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene.
|
11559911 |
2001 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ATRX gene are associated with X-linked mental retardation (XLMR) often accompanied by alpha thalassemia (ATRX syndrome).
|
20110566 |
2010 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain.
|
9326931 |
1997 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we report two brothers with clinical features of ATR-X syndrome, in whom a novel missense (C>T) mutation was identified in exon 31 of the ATRX gene.
|
22089611 |
2011 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
|
10204841 |
1999 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Here, we describe a 4-year-old girl with typical features of ATRX syndrome, carrying the recurrent R246C mutation of ATRX.
|
16955409 |
2006 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Partial duplications of the ATRX gene cause the ATR-X syndrome.
|
17579672 |
2007 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.
|
10417298 |
1999 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.
|
12673795 |
2003 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel splicing mutation of the ATRX gene in ATR-X syndrome.
|
16376512 |
2006 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Expanding phenotype of XNP mutations: mild to moderate mental retardation.
|
12116232 |
2002 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
|
7697714 |
1995 |
|
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.
|
15565397 |
2005 |
|
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Carpenter-Waziri syndrome results from a mutation in XNP.
|
10398237 |
1999 |
|
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.
|
11050622 |
2000 |
|
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
SFMS is caused by a mutation in the α‑thalassemia/mental retardation syndrome X‑linked (ATRX) gene and has an X‑linked recessive pattern.
|
31746429 |
2020 |
|
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Asplenia in ATR-X syndrome: a second report.
|
16222662 |
2005 |
|
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
XNP mutation in a large family with Juberg-Marsidi syndrome.
|
8630485 |
1996 |
|
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.
|
10751095 |
2000 |
|
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
MYELODYSPLASTIC SYNDROME
|
0.470 |
GeneticVariation
|
group |
BEFREE |
Our data confirm the low frequency of ATRX mutations in MDS: 0% in an unselected clinical trial cohort of 80 low risk MDS, 0.2-0.8% in a multicenter registry of 2,980 MDS and 43% of MDS with unexplained microcytosis in this same registry.
|
26017030 |
2015 |