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Fetal anomalies

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

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: HGNC approved name KIFBP.

Multiple congenital anomalies syndrome.
Created: 13 Jun 2020, 8 a.m. | Last Modified: 13 Jan 2022, 6:34 a.m.
Panel Version: 0.2028
Sources: Expert list
Created: 26 Nov 2019, 10:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Goldberg-Shprintzen megacolon syndrome 609460

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome, MIM# 609460
OMIM
609367
Clinvar variants
Variants in KIF1BP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jan 2022, 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 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF1BP were changed from GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME to Goldberg-Shprintzen megacolon syndrome, MIM# 609460

13 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIF1BP were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF1BP was added gene: KIF1BP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF1BP were set to GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME