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Childhood interstitial lung disease v0.6 RAB5B Achchuthan Shanmugasundram Classified gene: RAB5B as Amber List (moderate evidence)
Childhood interstitial lung disease v0.6 RAB5B Achchuthan Shanmugasundram Added comment: Comment on list classification: The rating of this gene will remain amber on this panel as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.6 RAB5B Achchuthan Shanmugasundram Gene: rab5b has been classified as Amber List (Moderate Evidence).
Childhood interstitial lung disease v0.4 RAB5B Achchuthan Shanmugasundram Classified gene: RAB5B as Amber List (moderate evidence)
Childhood interstitial lung disease v0.4 RAB5B Achchuthan Shanmugasundram Added comment: Comment on list classification: As there is only one human case and functional evidence from C. elegans and proband's lung biopsy reported so far, this gene should be rated amber with current evidence.
Childhood interstitial lung disease v0.4 RAB5B Achchuthan Shanmugasundram Gene: rab5b has been classified as Amber List (Moderate Evidence).
Childhood interstitial lung disease v0.3 RAB5B Achchuthan Shanmugasundram changed review comment from: PMID:35121658 reported a female child of Pakistani descent presenting with interstitial lung disease (ILD) suggestive of a surfactant dysfunction disorder, dysmorphic features, and global developmental delay. A de novo heterozygous variant in RAB5B gene (c.406G>C/ p.Asp136His) was identified via trio exome sequencing and confirmed by Sanger sequencing.

There is functional evidence available from Caenorhabditis elegans, where knocking the proband variant into the conserved position (Asp135) of the ortholog showed that the variant is damaging, producing a strong dominant negative gene product. Evidence is also available from immunostaining studies of the proband's lung biopsy, indicating dominant negative-acting RAB5B Asp136His and EE dysfunction cause a defect in processing/trafficking to produce mature SP-B and SP-C, resulting in interstitial lung disease.

This gene has not yet been associated with any phenotypes either in ClinGen, Gene2Phenotype or PanelApp Australia; to: PMID:35121658 reported a female child of Pakistani descent presenting with interstitial lung disease (ILD) suggestive of a surfactant dysfunction disorder, dysmorphic features, and global developmental delay. A de novo heterozygous variant in RAB5B gene (c.406G>C/ p.Asp136His) was identified via trio exome sequencing and confirmed by Sanger sequencing.

There is functional evidence available from Caenorhabditis elegans, where knocking the proband variant into the conserved position (Asp135) of the ortholog showed that the variant is damaging, producing a strong dominant negative gene product. Evidence is also available from immunostaining studies of the proband's lung biopsy, indicating dominant negative-acting RAB5B Asp136His and EE dysfunction cause a defect in processing/trafficking to produce mature SP-B and SP-C, resulting in interstitial lung disease.

This gene has not yet been associated with any phenotypes either in ClinGen, Gene2Phenotype or PanelApp Australia.
Childhood interstitial lung disease v0.3 RAB5B Achchuthan Shanmugasundram edited their review of gene: RAB5B: Added comment: PMID:35121658 reported a female child of Pakistani descent presenting with interstitial lung disease (ILD) suggestive of a surfactant dysfunction disorder, dysmorphic features, and global developmental delay. A de novo heterozygous variant in RAB5B gene (c.406G>C/ p.Asp136His) was identified via trio exome sequencing and confirmed by Sanger sequencing.

There is functional evidence available from Caenorhabditis elegans, where knocking the proband variant into the conserved position (Asp135) of the ortholog showed that the variant is damaging, producing a strong dominant negative gene product. Evidence is also available from immunostaining studies of the proband's lung biopsy, indicating dominant negative-acting RAB5B Asp136His and EE dysfunction cause a defect in processing/trafficking to produce mature SP-B and SP-C, resulting in interstitial lung disease.

This gene has not yet been associated with any phenotypes either in ClinGen, Gene2Phenotype or PanelApp Australia; Changed rating: AMBER
Childhood interstitial lung disease v0.2 RAB5B Achchuthan Shanmugasundram reviewed gene: RAB5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 35121658; Phenotypes: interstitial lung disease, MONDO:0015925; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood interstitial lung disease v0.1 RAB5B Achchuthan Shanmugasundram gene: RAB5B was added
gene: RAB5B was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: RAB5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB5B were set to 35121658
Phenotypes for gene: RAB5B were set to interstitial lung disease, MONDO:0015925