Leukodystrophy - paediatric
Gene: SLC16A2EnsemblGeneIds (GRCh38): ENSG00000147100
EnsemblGeneIds (GRCh37): ENSG00000147100
OMIM: 300095, Gene2Phenotype
SLC16A2 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability. In a recent review of 24 affected individuals (PMID 31410843), 16 presented with profound developmental delay, three had severe intellectual disability with poor language and walking with an aid, four had moderate intellectual disability with language and walking abilities, and one had mild intellectual disability with hypotonia. Overall, eight had learned to walk, all had hypotonia, 17 had spasticity, 18 had dystonia, 12 had choreoathetosis, 19 had hypomyelination, and 10 had brain atrophy. Kyphoscoliosis (n=12), seizures (n=7), and pneumopathies (n=5) were the most severe complications.Created: 10 Sep 2020, 4:15 a.m. | Last Modified: 10 Sep 2020, 4:15 a.m.
Panel Version: 0.171
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Allan-Herndon-Dudley syndrome, MIM# 300523
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Allan-Herndon-Dudley syndrome, MIM# 300523
- Hypomyelination
- OMIM
- 300095
- Clinvar variants
- Variants in SLC16A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Mackenzie's Mission_Reproductive Carrier Screening
- Hyperthyroidism
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Congenital hypothyroidism
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc16a2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC16A2 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Allan-Herndon-Dudley syndrome; Monocarboxylate transporter 8 deficiency (MCT8); Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease to Allan-Herndon-Dudley syndrome, MIM# 300523; Hypomyelination
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC16A2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SLC16A2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC16A2 was added gene: SLC16A2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: SLC16A2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Allan-Herndon-Dudley syndrome; Monocarboxylate transporter 8 deficiency (MCT8); Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease