Hereditary Spastic Paraplegia - paediatric
Gene: RAB3GAP2EnsemblGeneIds (GRCh38): ENSG00000118873
EnsemblGeneIds (GRCh37): ENSG00000118873
OMIM: 609275, Gene2Phenotype
RAB3GAP2 is in 16 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Syndromic spasticity.Created: 6 Jul 2020, 4:24 a.m. | Last Modified: 6 Jul 2020, 4:24 a.m.
Panel Version: 0.106
Elena Savva (Victorian Clinical Genetics Services)
PMID: 32376645 - 1 patient with bilateral clinodactyly and syndactyly, normal MRI and learning difficulties. Review of previous reports notes 9 additional patients (4 families) with Marsolf syndrome, with postnatal microcephaly (5/9), congenital cataracts (7/9), limb spasticity (7/9) and optic nerve atrophy (2/9).
Sources: LiteratureCreated: 6 Jul 2020, 4:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Martsolf syndrome 212720
Publications
- PMID: 32376645
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Martsolf syndrome 212720
- OMIM
- 609275
- Clinvar variants
- Variants in RAB3GAP2
- Penetrance
- None
- Publications
-
- PMID: 32376645
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Microcephaly
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Anophthalmia_Microphthalmia_Coloboma
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Cataract
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Hereditary Spastic Paraplegia - paediatric
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rab3gap2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rab3gap2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP2 were set to PMID: 32376645 Phenotypes for gene: RAB3GAP2 were set to Martsolf syndrome 212720 Review for gene: RAB3GAP2 was set to GREEN