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Intellectual disability v8.238 DDX39B Achchuthan Shanmugasundram Classified gene: DDX39B as Amber List (moderate evidence)
Intellectual disability v8.238 DDX39B Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases with missense variants) available for the association. Hence, this gene can be promoted to green rating in the next GMS update.
Intellectual disability v8.238 DDX39B Achchuthan Shanmugasundram Gene: ddx39b has been classified as Amber List (Moderate Evidence).
Intellectual disability v8.237 DDX39B Achchuthan Shanmugasundram changed review comment from: As reviewed by Mike Spiller, PMID:39918047 reported the identification of monoallelic DDX39B variants in six patients from five unrelated families presenting with a neurodevelopmental disorder. Intellectual disability was reported in three of four unrelated patients identified with de novo missense variants, of which ID was severe in two and mild in one. The fourth patient had global developmental delay.

This gene has not yet been associated with relevant phenotypes in OMIM or Gene2Phenotype.; to: As reviewed by Mike Spiller, PMID:39918047 reported the identification of monoallelic DDX39B variants in six patients from five unrelated families presenting with a neurodevelopmental disorder. Intellectual disability was reported in three of four unrelated patients identified with de novo missense variants, of which ID was severe in two and mild in one. The fourth patient had global developmental delay.

The two patients from the same family with splice variant did not present with ID.

This gene has not yet been associated with relevant phenotypes in OMIM or Gene2Phenotype.
Intellectual disability v8.237 DDX39B Achchuthan Shanmugasundram changed review comment from: As reviewed by Mike Spiller, PMID:39918047 reported the identification of monoallelic DDX39B variants in six patients from five unrelated families presenting with a neurodevelopmental disorder. Intellectual disability was reported in three of four patients identified with de novo missense variants, of which ID was severe in two and mild in one. The fourth patient had global developmental delay.

This gene has not yet been associated with relevant phenotypes in OMIM or Gene2Phenotype.; to: As reviewed by Mike Spiller, PMID:39918047 reported the identification of monoallelic DDX39B variants in six patients from five unrelated families presenting with a neurodevelopmental disorder. Intellectual disability was reported in three of four unrelated patients identified with de novo missense variants, of which ID was severe in two and mild in one. The fourth patient had global developmental delay.

This gene has not yet been associated with relevant phenotypes in OMIM or Gene2Phenotype.
Intellectual disability v8.237 DDX39B Achchuthan Shanmugasundram commented on gene: DDX39B: As reviewed by Mike Spiller, PMID:39918047 reported the identification of monoallelic DDX39B variants in six patients from five unrelated families presenting with a neurodevelopmental disorder. Intellectual disability was reported in three of four patients identified with de novo missense variants, of which ID was severe in two and mild in one. The fourth patient had global developmental delay.

This gene has not yet been associated with relevant phenotypes in OMIM or Gene2Phenotype.
Intellectual disability v8.237 DDX39B Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: DDX39B.
Tag Q2_25_ NHS_review tag was added to gene: DDX39B.
Intellectual disability v8.237 DDX39B Achchuthan Shanmugasundram Phenotypes for gene: DDX39B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v8.236 DDX39B Achchuthan Shanmugasundram Phenotypes for gene: DDX39B were changed from to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v8.236 DDX39B Achchuthan Shanmugasundram Publications for gene: DDX39B were set to PMID: 39918047
Intellectual disability v8.235 DDX39B Achchuthan Shanmugasundram reviewed gene: DDX39B: Rating: GREEN; Mode of pathogenicity: None; Publications: 39918047; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v8.163 DDX39B Mike Spiller gene: DDX39B was added
gene: DDX39B was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: DDX39B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX39B were set to PMID: 39918047
Review for gene: DDX39B was set to GREEN
Added comment: PMID: 39918047 - report 4 de novo missense variants in individuals with phenotypes of ID ranging from mild to severe (2 severe, 1 mild, 1 severity not stated but phenotype of GDD).
Hypotonia, short stature and skeletal abnormalities are also observed frequently.
Variants absent from gnomad, affect highly conserved amino acids in constrained regions of DEAD/DEAH box helicase domain.

Splice variant causing inframe deletion also identified in fifth family (proband and mother), but significance of this unclear as neither has ID.

Supported by functional studies:
Transcriptome profiling shows significant increase in abberant splicing events, consistent with DDX39B role as splicing factor.
Drosophila experiments - overexpression of WT human gene is lethal, but flies overexpressing variants were healthy, suggesting these variants cause loss of / reduced protein function.

Overall good evidence for DEAD box helicase missenses causing an autosomal dominant syndromic ID disorder.
Sources: Literature