Leukodystrophy - adult onset
Gene: RPS6KA3EnsemblGeneIds (GRCh38): ENSG00000177189
EnsemblGeneIds (GRCh37): ENSG00000177189
OMIM: 300075, Gene2Phenotype
RPS6KA3 is in 14 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
One family reported with white matter changes, which does not appear to be a prominent feature of the condition.Created: 19 Apr 2020, 10:42 p.m. | Last Modified: 19 Apr 2020, 10:42 p.m.
Panel Version: 0.21
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Coffin-Lowry syndrome MIM#303600
Publications
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
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Coffin-Lowry syndrome, 303600
- OMIM
- 300075
- Clinvar variants
- Variants in RPS6KA3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Growth failure
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rps6ka3 has been classified as Red List (Low Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RPS6KA3 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RPS6KA3 was added gene: RPS6KA3 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: RPS6KA3 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: RPS6KA3 were set to Coffin-Lowry syndrome, 303600