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Mendeliome

Gene: SCRIB

Red List (low evidence)

SCRIB (scribbled planar cell polarity protein)
EnsemblGeneIds (GRCh38): ENSG00000180900
EnsemblGeneIds (GRCh37): ENSG00000180900
OMIM: 607733, Gene2Phenotype
SCRIB is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Evidence for deletions involving SCRIB and PUF60 causing multiple congenital abnormalities/dysmorphic features; however, subsequent evidence has established that these are most likely related to PUF60. Also some evidence for association with spina bifida but contribution uncertain.
Created: 21 Nov 2019, 8:57 a.m. | Last Modified: 21 Nov 2019, 8:57 a.m.
Panel Version: 0.53

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
OMIM
607733
Clinvar variants
Variants in SCRIB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCRIB were set to

21 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scrib has been classified as Green List (High Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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