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  3. RBM10
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Arthrogryposis

Gene: RBM10

Red List (low evidence)
RBM10 (RNA binding motif protein 10)
EnsemblGeneIds (GRCh38): ENSG00000182872
EnsemblGeneIds (GRCh37): ENSG00000182872
OMIM: 300080, Gene2Phenotype
RBM10 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Talipes rather than multiple congenital contractures.
Created: 12 Jul 2020, 10:03 a.m. | Last Modified: 12 Jul 2020, 10:03 a.m.
Panel Version: 0.159

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
TARP syndrome, MIM# 311900

Created: 12 Jul 2020, 10:03 a.m.
Last Modified: 12 Jul 2020, 10:03 a.m.
Panel version: 0.159

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • TARP syndrome, MIM# 311900
OMIM
300080
Clinvar variants
Variants in RBM10
Penetrance
None
Panels with this gene

History Filter Activity

12 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbm10 has been classified as Red List (Low Evidence).

12 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RBM10 were changed from to TARP syndrome, MIM# 311900

12 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RBM10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

12 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbm10 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RBM10 was added gene: RBM10 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RBM10 was set to Unknown