Combined B and T cell defect
Gene: RFXANKComment on publications: Moved detailed reviews on publications to review section and kept PMID listed hereCreated: 29 Mar 2018, 12:05 p.m.
Review made by Ellen McDonagh (Genomics England Curator) 6 Jun 2016, 11:51 a.m. PMID: 11313409 - case study of a North African patient with MHC class II deficiency homozygous 1-bp transversion (G to C) that abolished the splice site downstream of exon 4 of the RFXANK gene
PMID:12618906 - two novel missense variants
PMID: 22863278 - 9 out of 11 unrelated Algerian patients with histocompatibility complex class II expression deficiency had a 26 bp deletion (named I5E6-25_I5E6+1, also known as 752delG26). PMID: 20414676 - ten unrelated Moroccan patients with MHC class II deficiency all had the same homozygous 752delG26 mutation. PMID: 9806546 - functional evidence.Created: 29 Mar 2018, 12:03 p.m.
Comment on list classification: Gene added by a reviewer and rated green. Large deletions in this gene have been reported in patients of North African origin, however missense and splice variants have also been reported.
Created: 6 Jun 2016, 10:51 a.m.
Publications for RFXANK were set to 11313409; 12618906; 22863278; 20414676; 9806546
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for RFXANK were set to PMID: 11313409 - case study of a North African patient with MHC class II deficiency homozygous 1-bp transversion (G to C) that abolished the splice site downstream of exon 4 of the RFXANK gene; PMID:12618906 - two novel missense variants; PMID: 22863278 - 9 out of 11 unrelated Algerian patients with histocompatibility complex class II expression deficiency had a 26 bp deletion (named I5E6-25_I5E6+1, also known as 752delG26). PMID: 20414676 - ten unrelated Moroccan patients with MHC class II deficiency all had the same homozygous 752delG26 mutation. PMID: 9806546 - functional evidence.
Publications for RFXANK were set to PMID: 11313409 - case study of a North African patient with MHC class II deficiency homozygous 1-bp transversion (G to C) that abolished the splice site downstream of exon 4 of the RFXANK gene; PMID:12618906 - two novel missense variants; PMID: 22863278 - 9 out of 11 unrelated Algerian patients with histocompatibility complex class II expression deficiency had a 26 bp deletion (named I5E6-25_I5E6+1, also known as 752delG26). PMID: 20414676 - ten unrelated Moroccan patients with MHC class II deficiency all had the same homozygous 752delG26 mutation. PMID: 9806546 - function evidence.
Publications for RFXANK were set to PMID: 11313409 - case study of a North African patient with MHC class II deficiency homozygous 1-bp transversion (G to C) that abolished the splice site downstream of exon 4 of the RFXANK gene; PMID:12618906 - two novel missense variants; PMID: 22863278 - 9 out of 11 unrelated Algerian patients with histocompatibility complex class II expression deficiency had a 26 bp deletion (named I5E6-25_I5E6+1, also known as 752delG26). PMID: 20414676 - ten unrelated Moroccan patients with MHC class II deficiency all had the same homozygous 752delG26 mutation. PMID: 9806546.
Publications for RFXANK were set to PMID: 11313409 - ; 12618906; PMID: 22863278 - 9 out of 11 unrelated Algerian patients with histocompatibility complex class II expression deficiency had a 26 bp deletion (named I5E6-25_I5E6+1, also known as 752delG26). PMID: 20414676 - ten unrelated Moroccan patients with MHC class II deficiency all had the same homozygous 752delG26 mutation. PMID: 9806546 -
RFXANK was added to Combined B and T cell defectpanel. Sources: Literature,Expert Review,Expert list