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Pneumothorax

Gene: CBS

Amber List (moderate evidence)
CBS (cystathionine-beta-synthase)
EnsemblGeneIds (GRCh38): ENSG00000160200
EnsemblGeneIds (GRCh37): ENSG00000160200
OMIM: 613381, Gene2Phenotype
CBS is in 15 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

The prevalence of spontaneous pneumothorax as a feature of homocystinuria is unknown. It appears to be very rare. There are 3 unrelated patients reported in the literature, one presented with spontaneous pneumothorax.
Sources: Expert list
Created: 30 Oct 2022, 11:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Classic homocystinuria MONDO:0009352

Publications

Created: 30 Oct 2022, 11:04 p.m.

Panel version: 0.4

History Filter Activity

30 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 Oct 2022, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CBS was added gene: CBS was added to Pneumothorax. Sources: Expert list Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBS were set to 2333882; 27229674; 9427154; 30681372 Phenotypes for gene: CBS were set to Classic homocystinuria MONDO:0009352 Review for gene: CBS was set to AMBER