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Primary immunodeficiency or monogenic inflammatory bowel disease v9.105 DCLRE1B Ida Ertmanska Classified gene: DCLRE1B as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v9.105 DCLRE1B Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated individuals reported in literature with biallelic DCLRE1B variants and bone marrow failure, with pancytopenia or severe lymphopenia, which required transfusions early on. Additional variable features included microcephaly, IBD, and delayed speech. Only P2 had mucocutaneous features of dyskeratosis congenita, including sparse hair, leukoplakia, nail dystrophy, and skin hyperpigmentation. Based on available evidence, this gene can be promoted to Green on Primary immunodeficiency or monogenic inflammatory bowel disease.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.105 DCLRE1B Ida Ertmanska Gene: dclre1b has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.104 DCLRE1B Ida Ertmanska Phenotypes for gene: DCLRE1B were changed from Dyskeratosis congenita, autosomal recessive 8, OMIM:620133 to Dyskeratosis congenita, autosomal recessive 8, OMIM:620133; dyskeratosis congenita, autosomal recessive 8, MONDO:0859319
Primary immunodeficiency or monogenic inflammatory bowel disease v9.103 DCLRE1B Ida Ertmanska Publications for gene: DCLRE1B were set to 20479256
Primary immunodeficiency or monogenic inflammatory bowel disease v9.102 DCLRE1B Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.102 DCLRE1B Ida Ertmanska reviewed gene: DCLRE1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35007328; Phenotypes: Dyskeratosis congenita, autosomal recessive 8, OMIM:620133, dyskeratosis congenita, autosomal recessive 8, MONDO:0859319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 DCLRE1B Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 DCLRE1B Sarah Leigh reviewed gene: DCLRE1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 DCLRE1B Achchuthan Shanmugasundram Source Expert Review Amber was added to DCLRE1B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.125 DCLRE1B Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: DCLRE1B.
Tag Q3_21_expert_review was removed from gene: DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.5 DCLRE1B Achchuthan Shanmugasundram Tag gene-checked was removed from gene: DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.5 DCLRE1B Achchuthan Shanmugasundram Phenotypes for gene: DCLRE1B were changed from Hoyeraal-Hreidarsson syndrome; 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 to Dyskeratosis congenita, autosomal recessive 8, OMIM:620133
Primary immunodeficiency or monogenic inflammatory bowel disease v2.577 DCLRE1B Eleanor Williams commented on gene: DCLRE1B
Primary immunodeficiency or monogenic inflammatory bowel disease v2.577 DCLRE1B Eleanor Williams Tag Q3_21_rating tag was added to gene: DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.546 DCLRE1B Arina Puzriakova Tag gene-checked tag was added to gene: DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.527 DCLRE1B Arina Puzriakova commented on gene: DCLRE1B: Added 'to_be_confirmed_NHSE' tag as demotion of this gene requires further discussion
Primary immunodeficiency or monogenic inflammatory bowel disease v2.527 DCLRE1B Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.462 DCLRE1B Arina Puzriakova Tag Q3_21_expert_review tag was added to gene: DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.462 DCLRE1B Arina Puzriakova reviewed gene: DCLRE1B: Rating: ; Mode of pathogenicity: None; Publications: 20479256; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 DCLRE1B Zornitza Stark edited their review of gene: DCLRE1B: Changed mode of inheritance: Unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 DCLRE1B Zornitza Stark reviewed gene: DCLRE1B: Rating: RED; Mode of pathogenicity: None; Publications: 20479256, 21647296; Phenotypes: Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DCLRE1B Louise Daugherty commented on gene: DCLRE1B: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DCLRE1B Louise Daugherty commented on gene: DCLRE1B: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DCLRE1B Kimberly Gilmour reviewed gene: DCLRE1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 DCLRE1B Tracy Briggs reviewed gene: DCLRE1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 DCLRE1B Louise Daugherty Source NHS GMS was added to DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 DCLRE1B Louise Daugherty Source North West GLH was added to DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 DCLRE1B Louise Daugherty Source London North GLH was added to DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1B Louise Daugherty commented on gene: DCLRE1B
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1B Louise Daugherty marked gene: DCLRE1B as ready
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1B Louise Daugherty edited their review of gene: DCLRE1B
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1B Louise Daugherty classified DCLRE1B as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1B Sophie Hambleton reviewed gene: DCLRE1B
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1B Louise Daugherty commented on DCLRE1B
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1B Louise Daugherty commented on DCLRE1B
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1B Louise Daugherty commented on DCLRE1B
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1B Louise Daugherty reviewed DCLRE1B
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1B Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease DCLRE1B Louise Daugherty Added gene to panel