Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: DNAJC21
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Added publication referenced by IUIS december 2019 updateCreated: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Comment on list classification: Changed Red to Green from external review comment and further publications to support gene-disease associationCreated: 6 Jul 2018, 10:25 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): DNAJC21 .PanelApp HGNC gene symbol check: DNAJC21 . IUIS Disease: Schwachman Diamond syndrome due to DNAJC21 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N. IUIS Associated features: Metaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Defects of MotilityCreated: 6 Jul 2018, 10:24 a.m.
Publications
Publications for gene DNAJC21 were updated from 27346687; 28062395; 29700810 to 27346687; 29700810; 28062395
Source NHS GMS was added to DNAJC21.
Source North West GLH was added to DNAJC21.
Source London North GLH was added to DNAJC21.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: dnajc21 has been classified as Green List (High Evidence).
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, 617052; Shwachman-Diamond syndrome-like; Metaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure; Congenital defects of phagocyte number or function
Gene: dnajc21 has been classified as Green List (High Evidence).
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, 617052; Shwachman-Diamond syndrome-likeMetaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure; Congenital defects of phagocyte number or function
Mode of inheritance for gene: DNAJC21 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC21 were set to 27346687; 28062395; 29700810
Phenotypes for gene DNAJC21 were set to Metaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure, Congenital defects of phagocyte number or function
DNAJC21 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
DNAJC21 was created by Louise Daugherty