Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.59
|
review
|
Not set
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- SGA, which is sometimes called intrauterine growth restriction (IUGR),
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.23
|
review
|
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
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Alpha-thalassemia/mental retardation syndrome 301040
|
Version 0.36
|
review
|
Not set
|
Sources
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Amber
- BRIDGE consortium (NIHRBR-RD)
Phenotypes
- Myelodysplastic syndrome (MDS), Adult
- Alpha-thalassemia myelodysplasia syndrome, somatic 300448
- Alpha-thalassemia/mental retardation syndrome 301040 XLD
Tags
|
Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Red
- NHS GMS
- London South GLH
Phenotypes
- 301040 Alpha-thalassemia/mental retardation syndrome
|
Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Mental retardation-hypotonic facies syndrome, X-linked 309580
|
Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.67
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
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)
|
Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1
- ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Proportionate Short Stature/Small for Gestational Age
Tags
|
Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580
- ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE 301040
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
Phenotypes
- MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
- MRXHF1
|
Version 3.88
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Unknown
|
Sources
Phenotypes
- SGA, which is sometimes called intrauterine growth restriction (IUGR),
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
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
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
- UKGTN
- Expert
Phenotypes
- Alpha-thalassemia/mental retardation syndrome, 301040
- Mental retardation-hypotonic facies syndrome, X-linked, 309580
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Alpha-thalassemia/mental retardation syndrome, 301040
- Mental retardation-hypotonic facies syndrome, X-linked, 309580
|
Version 1.184
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Alpha-thalassemia/mental retardation syndrome, 301040
- Mental retardation-hypotonic facies syndrome, X-linked, 309580
|