Surfactant deficiencyGene: CSF2RB
Is on Royal Brompton Childhood interstitial lung disease (surfactant deficiency) panel, but age of onset most likely to be post-neonate (which this panel is aimed at), therefore red listed here.
Created: 20 Aug 2019, 4:53 p.m. | Last Modified: 20 Aug 2019, 4:53 p.m.
Panel Version: 0.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Would not be expected to present in neonates, which are the intended target of this panel.
Created: 20 Jan 2019, 6:26 p.m.
From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was not enough evidence to rate this gene Green on this panel, so rating was downgraded to Red
Created: 21 Jan 2019, 10:15 p.m.
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: CSF2RB; Suggested initial gene rating: Green; Evidence for inclusion: OMIM Surfactant metabolism dysfunction gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 2:58 p.m.
Mode of inheritance for gene: CSF2RB was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: csf2rb has been classified as Red List (Low Evidence).
Source Expert Review Green was added to CSF2RB. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CSF2RB was added gene: CSF2RB was added to Surfactant deficiency. Sources: NHS GMS Mode of inheritance for gene: CSF2RB was set to