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  3. KIF1BP
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Polymicrogyria and Schizencephaly

Gene: KIF1BP

Green List (high evidence)
KIF1BP (KIF1 binding protein)
EnsemblGeneIds (GRCh38): ENSG00000198954
EnsemblGeneIds (GRCh37): ENSG00000198954
OMIM: 609367, Gene2Phenotype
KIF1BP is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: HGNC approved name is KIFBP.
Created: 13 Jun 2020, 7:59 a.m. | Last Modified: 13 Jun 2020, 7:59 a.m.
Panel Version: 0.88
Created: 13 Jun 2020, 7:59 a.m.
Last Modified: 13 Jun 2020, 7:59 a.m.
Panel version: 0.88

Chloe Stutterd (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polymicrogryia in Goldberg-Shprintzen megacolon syndrome MIM#609460

Publications

Created: 12 Jun 2020, 4:17 a.m.
Last Modified: 12 Jun 2020, 4:17 a.m.
Panel version: 0.83

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome MIM#609460
Tags
new gene name
OMIM
609367
Clinvar variants
Variants in KIF1BP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif1bp has been classified as Green List (High Evidence).

13 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF1BP were changed from Goldberg-Shprintzen megacolon syndrome MIM#609460 to Goldberg-Shprintzen megacolon syndrome MIM#609460

13 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF1BP were changed from to Goldberg-Shprintzen megacolon syndrome MIM#609460

13 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KIF1BP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

13 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KIF1BP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

13 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIF1BP were set to

13 Jun 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: KIF1BP.

13 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KIF1BP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

13 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KIF1BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF1BP was added gene: KIF1BP was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: KIF1BP was set to Unknown