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Intellectual disability v9.206 KIF5B Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: KIF5B.
Intellectual disability v8.8 KIF5B Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Although ID was reported in four of seven cases, all these patients display complex syndromic disease with broad spectrum of phenotypes and the severity of ID was mild in one and not reported in two others. This gene has been added with green rating on the DDG2P panel and hence will be included in the paediatric disorders super panel.

Hence, this gene should be rated amber with current evidence. The 'watchlist' tag has been added to keep track new evidence.; to: Comment on list classification: Although ID was reported in four of seven cases, all these patients display complex syndromic disease with broad spectrum of phenotypes and the severity of ID was mild in one and not reported in two others. This gene has been added with green rating on the DDG2P panel and hence will be included in the paediatric disorders super panel.

Hence, this gene should be rated amber with current evidence. The 'watchlist' tag has been added to keep track of new evidence.
Intellectual disability v8.8 KIF5B Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v8.8 KIF5B Achchuthan Shanmugasundram Classified gene: KIF5B as Amber List (moderate evidence)
Intellectual disability v8.8 KIF5B Achchuthan Shanmugasundram Added comment: Comment on list classification: Although ID was reported in four of seven cases, all these patients display complex syndromic disease with broad spectrum of phenotypes and the severity of ID was mild in one and not reported in two others. This gene has been added with green rating on the DDG2P panel and hence will be included in the paediatric disorders super panel.

Hence, this gene should be rated amber with current evidence. The 'watchlist' tag has been added to keep track new evidence.
Intellectual disability v8.8 KIF5B Achchuthan Shanmugasundram Gene: kif5b has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.8 KIF5B Achchuthan Shanmugasundram Classified gene: KIF5B as Amber List (moderate evidence)
Intellectual disability v8.8 KIF5B Achchuthan Shanmugasundram Added comment: Comment on list classification: Although ID was reported in four of seven cases, all these patients display complex syndromic disease with broad spectrum of phenotypes and the severity of ID was mild in one and not reported in two others. This gene has been added with green rating on the DDG2P panel and hence will be included in the paediatric disorders super panel.

Hence, this gene should be rated amber with current evidence. The 'watchlist' tag has been added to keep track new evidence.
Intellectual disability v8.8 KIF5B Achchuthan Shanmugasundram Gene: kif5b has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.7 KIF5B Achchuthan Shanmugasundram Tag watchlist tag was added to gene: KIF5B.
Intellectual disability v8.7 KIF5B Achchuthan Shanmugasundram Phenotypes for gene: KIF5B were changed from kyphomelic dysplasia; hypotonia; developmental delay; intellectual disability to kyphomelic dysplasia, MONDO:0008881; intellectual disability, MONDO:0001071
Intellectual disability v8.6 KIF5B Achchuthan Shanmugasundram changed review comment from: As reviewed by Tracy Lester, there are a total of seven patients reported with missense variants in KIF5B gene from PMIDs: 35342932 and 36018820. Four of these seven patients presented with intellectual disability (two each from the two studies).

This gene has been associated with relevant phenotype in Gene2Phenotype (with 'moderate' rating on the DD panel), but not yet in OMIM.; to: As reviewed by Tracy Lester, there are a total of seven patients reported with missense variants in KIF5B gene from PMIDs: 35342932 and 36018820. Four of these seven patients presented with intellectual disability (two each from the two studies). PMID:36018820 reported the severity of ID as severe for one patient and mild for another, while severity was not recoded in PMID:35342932.

This gene has been associated with relevant phenotype in Gene2Phenotype (with 'moderate' rating on the DD panel), but not yet in OMIM.
Intellectual disability v8.6 KIF5B Achchuthan Shanmugasundram reviewed gene: KIF5B: Rating: AMBER; Mode of pathogenicity: None; Publications: 35342932, 36018820; Phenotypes: kyphomelic dysplasia, MONDO:0008881, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v7.61 KIF5B Tracy Lester gene: KIF5B was added
gene: KIF5B was added to Intellectual disability. Sources: NHS GMS
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to 36018820; 35342932
Phenotypes for gene: KIF5B were set to kyphomelic dysplasia; hypotonia; developmental delay; intellectual disability
Penetrance for gene: KIF5B were set to unknown
Review for gene: KIF5B was set to AMBER
Added comment: PMID: 35342932 - 3 de novo missense variants reported in 4 subjects with a syndromic skeletal disorder characterized by kyphomelic dysplasia, hypotonia and DD/ID
PMID: 36018820 - 3 more missense variants reported in individuals with a clinically wide phenotypic spectrum ranging from dilated cardiomyopathy with adult-onset ophthalmoplegia and progressive skeletal myopathy to a neurodevelopmental condition characterized by severe hypotonia with or without seizures. In vitro and in vivo analyses provide evidence that the identified disease-associated KIF5B variants disrupt lysosomal, autophagosome and mitochondrial organization, and impact cilium biogenesis. All variants, and one of the previously reported missense changes, were shown to affect multiple developmental processes in zebrafish.
Sources: NHS GMS