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Intellectual disability syndromic and non-syndromic

Gene: KIF1BP

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: HGNC approved name KIFBP.
Created: 13 Jun 2020, 8 a.m. | Last Modified: 13 Jun 2020, 8 a.m.
Panel Version: 0.2694
Sources: Expert list
Created: 26 Nov 2019, 10:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Goldberg-Shprintzen megacolon syndrome 609460

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

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Nov 2019, 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).

26 Nov 2019, 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).

26 Nov 2019, Gel status: 1

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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome 609460 Review for gene: KIF1BP was set to GREEN