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Mendeliome

Gene: MBNL1

Red List (low evidence)

MBNL1 (muscleblind like splicing regulator 1)
EnsemblGeneIds (GRCh38): ENSG00000152601
EnsemblGeneIds (GRCh37): ENSG00000152601
OMIM: 606516, Gene2Phenotype
MBNL1 is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Cannot find evidence for association with a Mendelian disorder.
Created: 6 Jan 2022, 12:44 a.m. | Last Modified: 6 Jan 2022, 12:44 a.m.
Panel Version: 0.10522

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
OMIM
606516
Clinvar variants
Variants in MBNL1
Penetrance
None
Panels with this gene

History Filter Activity

6 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mbnl1 has been classified as Red List (Low Evidence).

6 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mbnl1 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: MBNL1 was added gene: MBNL1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MBNL1 was set to Unknown