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Intellectual disability

Gene: CSF2RA

Red List (low evidence)

CSF2RA (colony stimulating factor 2 receptor alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000198223
EnsemblGeneIds (GRCh37): ENSG00000198223
OMIM: 306250, Gene2Phenotype
CSF2RA is in 6 panels

4 reviews

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Changed MOI to BIALLELIC. Pseudoautosomal region 1. Mode of inheritance has been checked.
Created: 10 Dec 2019, 11:28 a.m. | Last Modified: 10 Dec 2019, 11:28 a.m.
Panel Version: 2.1140

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Not related to ID: should be taken off the ID panel.
Created: 27 Oct 2017, 2:46 p.m.

Phenotypes
Surfactant metabolism dysfunction, pulmonary, 4 300770

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 4 300770
OMIM
306250
Clinvar variants
Variants in CSF2RA
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Dec 2019, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: CSF2RA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to BIALLELIC, autosomal or pseudoautosomal

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CSF2RA was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CSF2RA was created by ellenmcdonagh