Surfactant deficiency

Gene: CSF2RB

Red List (low evidence)

CSF2RB (colony stimulating factor 2 receptor beta common subunit)
EnsemblGeneIds (GRCh38): ENSG00000100368
EnsemblGeneIds (GRCh37): ENSG00000100368
OMIM: 138981, Gene2Phenotype
CSF2RB is in 5 panels

3 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Red List (low evidence)

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

Anna de Burca (Genomics England Curator)

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.

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
OMIM
138981
Clinvar variants
Variants in CSF2RB
Penetrance
None
Panels with this gene

History Filter Activity

4 Sep 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CSF2RB was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Jan 2019, Gel status: 1

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: csf2rb has been classified as Red List (Low Evidence).

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CSF2RB. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CSF2RB was added gene: CSF2RB was added to Surfactant deficiency. Sources: NHS GMS Mode of inheritance for gene: CSF2RB was set to