Hereditary Neuropathy_CMT - isolated
Gene: KIF1B
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
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
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
Publications for gene: KIF1B were set to
Mode of inheritance for gene: KIF1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: kif1b has been classified as Red List (Low Evidence).
Gene: kif1b has been classified as Amber List (Moderate Evidence).
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