Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: PARN
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
Comment on list classification: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for Dyskeratosis congenita, autosomal recessive 6 616353. At least 6 variants reported in 4 unrelated cases of Dyskeratosis congenita, autosomal recessive 6 616353 and at least 4 variants found in 4 unrelated cases of Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 616371.Created: 9 May 2018, 10:45 a.m.
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
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): PARN .PanelApp HGNC gene symbol check: PARN . IUIS Disease: AR-DKC due to PARN deficiency . IUIS Inheritance: AR (AD?) .T cells: N/A, .B cells: Variable, .IUIS Other affected cells: N/A. IUIS Associated features: Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: DyskeratosIs Congenita (DKC), Myelodysplasia, Short TelomeresCreated: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.Created: 20 Apr 2018, 12:25 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: PARN, GRID_Gene_Symbol: PARN, GRID_Transcript_ENS_Community submitted: ENST00000437198, GRID_Transcript_RefSeq: NM_002582.3, GRID_Transcript_ENS_used_on_Production: ENST00000437198Created: 17 Apr 2018, 12:12 p.m.
Source NHS GMS was added to PARN.
Source North West GLH was added to PARN.
Source London North GLH was added to PARN.
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.
Phenotypes for gene PARN were set to Dyskeratosis congenita, autosomal recessive 6 616353, Pulmonary fibrosis and/or bone marrow failure,telomere-related, 4 616371, Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients, Combined immunodeficiencies with associated or syndromic features
IUIS Classification February 2018 was added to PARN. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to PARN. Panel: Primary immunodeficiency disorders
Gene: parn has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for PARN were set to 25893599; 25848748; 26342108
Phenotypes for PARN were set to Dyskeratosis congenita, autosomal recessive 6 616353; Pulmonary fibrosis and/or bone marrow failure,telomere-related, 4 616371
Phenotypes for PARN were set to Dyskeratosis congenita, 6; Pulmonary fibrosis and/or bone marrow failure,telomere-related, 4
Expert Review Amber was added to PARN. Panel: Primary immunodeficiency disorders
Phenotypes for gene PARN were set to Dyskeratosis congenita, 6, Pulmonary fibrosis and/or bone marrow failure,telomere-related, 4, Pulmonary fibrosis and/or bone marrow failure,telomere-related, 4
PARN was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
PARN was created by Louise Daugherty