Microcephaly
Gene: KIF1BPEnsemblGeneIds (GRCh38): ENSG00000198954
EnsemblGeneIds (GRCh37): ENSG00000198954
OMIM: 609367, Gene2Phenotype
KIF1BP is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Autosomal recessive multiple congenital anomaly syndrome characterised by intellectual disability, microcephaly, and dysmorphic facial features. Most individuals also have Hirschsprung disease and/or gyral abnormalities of the brain, consistent with defects in migration of neural crest cells and neurons. Other features, such as megalocornea or urogenital anomalies, may also be present. Well established gene-disease association, multiple families reported. Note HGNC approved name is KIAA1279.
Sources: Expert listCreated: 1 Sep 2020, 5:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome, MIM# 609460
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Goldberg-Shprintzen megacolon syndrome, MIM# 609460
- Tags
- OMIM
- 609367
- Clinvar variants
- Variants in KIF1BP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Prepair 1000+
- Microcephaly
- Mendeliome
- Hirschsprung disease
- BabyScreen+ newborn screening
- Polymicrogyria and Schizencephaly
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif1bp has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kif1bp has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag new gene name tag was added to gene: KIF1BP.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KIF1BP was added gene: KIF1BP was added to Microcephaly. Sources: Expert list Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF1BP were set to 23427148 Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome, MIM# 609460 Review for gene: KIF1BP was set to GREEN