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Hereditary Neuropathy_CMT - isolated

Gene: KIF1B

Red List (low evidence)
KIF1B (kinesin family member 1B)
EnsemblGeneIds (GRCh38): ENSG00000054523
EnsemblGeneIds (GRCh37): ENSG00000054523
OMIM: 605995, Gene2Phenotype
KIF1B is in 5 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Reviewed by GenCC: suggest LIMITED or lower.
Created: 24 Jan 2022, 9:40 a.m. | Last Modified: 24 Jan 2022, 9:40 a.m.
Panel Version: 1.10

Phenotypes
Charcot-Marie-Tooth disease, type 2A1 MIM#118210

Created: 24 Jan 2022, 9:40 a.m.
Last Modified: 24 Jan 2022, 9:40 a.m.
Panel version: 1.10

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Compound heterozygous missense variants reported in a woman with severe hypotonia, hypsarrhythmia, coloboma, hypoplasia of corpus callosum, severe neurodevelopmental delay.

Note still Amber for the CMT phenotype.
Created: 5 Jul 2021, 6:23 a.m. | Last Modified: 5 Jul 2021, 6:23 a.m.
Panel Version: 0.8201

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypotonia; coloboma; hypoplasia of the corpus callosum; severe neurodevelopmental delay

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Jul 2021, 6:23 a.m.
Last Modified: 5 Jul 2021, 6:23 a.m.
Panel version: Imported from Mendeliome panel version 0.8201

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Three unrelated families reported and a mouse model. One of the variants (p.Val1358Ala) in one of these families (which also has a non-penetrant carrier in the family) has a European non-Finnish AF of 0.001237 in gnomAD, which is not usually rare enough for a dominant disease. Additionally, two cases reported with p.Tyr1087Cys, which is too common in gnomAD (global AF is 0.03313, 183 homozygotes)
Created: 23 Mar 2020, 6:28 a.m. | Last Modified: 23 Mar 2020, 6:28 a.m.
Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, type 2A1 MIM#118210

Publications

Created: 23 Mar 2020, 6:28 a.m.
Last Modified: 23 Mar 2020, 6:28 a.m.
Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, type 2A1, 118210
  • HMSN
OMIM
605995
Clinvar variants
Variants in KIF1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIF1B were set to

24 Jan 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KIF1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif1b has been classified as Red List (Low Evidence).

23 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kif1b has been classified as Amber List (Moderate Evidence).

13 Jan 2020, Gel status: 2

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KIF1B was added gene: KIF1B was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIF1B were set to Charcot Marie Tooth disease, type 2A1, 118210; HMSN