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Bone Marrow Failure v1.111 RAD51 Bryony Thompson gene: RAD51 was added
gene: RAD51 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAD51 were set to 26253028; 26681308; 30907510
Phenotypes for gene: RAD51 were set to Fanconi anemia complementation group R MONDO:0014986
Review for gene: RAD51 was set to RED
Added comment: At least 3 unrelated individuals reported with Fanconi Anaemia and de novo missense variants, however, bone marrow failure was not present in any of the individuals reported.
Sources: Expert list
Bone Marrow Failure v1.91 FANCL Santosh Varughese reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19405097, 25754594, 33394227, 33224012; Phenotypes: Fanconi anemia, complementation group L; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCI Santosh Varughese reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17452773; Phenotypes: Fanconi anemia, complementation group I; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCG Santosh Varughese reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 9806548, 12552564; Phenotypes: Fanconi anaemia, complementation group G; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCF Santosh Varughese reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 10615118, 31288759; Phenotypes: Fanconi anaemia, complementation group F; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCE Santosh Varughese reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 11001585, 31586946, 7662964, 9382107, 9147877, 10205272; Phenotypes: Fanconi anaemia, complementation group E; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCD2 Santosh Varughese reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17436244; Phenotypes: Fanconi anaemia, complementation group D2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCC Santosh Varughese reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31044565, 30792206, 28717661; Phenotypes: Fanconi anemia, complementation group C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCB Santosh Varughese reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 15502827; Phenotypes: Fanconi anaemia, complementation group B; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCA Santosh Varughese reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 ERCC4 Santosh Varughese reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23623386; Phenotypes: Fanconi anemia, complementation group Q; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 BRIP1 Santosh Varughese reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 27107905; Phenotypes: Fanconi anaemia, complementation group J; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 BRCA2 Santosh Varughese reviewed gene: BRCA2: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16825431; Phenotypes: Fanconi anaemia, complementation group D1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 BRCA1 Santosh Varughese reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23269703, 29133208, 25472942, 29712865; Phenotypes: Fanconi anemia, complementation group S; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.24 DCLRE1B Manny Jacobs gene: DCLRE1B was added
gene: DCLRE1B was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: DCLRE1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCLRE1B were set to 10699141; 20479256; 35007328
Phenotypes for gene: DCLRE1B were set to Dyskeratosis congenita, autosomal recessive 8
Review for gene: DCLRE1B was set to GREEN
Added comment: PMID 35007328
3 unrelated individuals with progressive bone marrow failure in early childhood. Other variable features reported: growth restriction, mild microcephaly (-2.5 SD), facial dysmorphism, and speech delay or learning difficulties, one patient with mucocutaneous features. Two individuals developed esophageal strictures and the third developed inflammatory ulcerative colitis.
2 patients chet for truncating/missense variant
1 patient hom for missense variant
Patient cell lines demonstrated telomere fragility and instability and an increase in spontaneous radial chromosomes, chromosome breaks and sister chromatid exchanges, as well as reduced cell survival. CRISPR introduction of one WT allele in one patient complemented DNA repair defects.

PMID: 20479256
One individual with Hoyeraal-Hreidarsson syndrome reported with shortened transcript in DCLRE1B of the patient’s cells; not seen in controls or other HH patients. Shortened transcript identified caused by intra-exonic splice of exon 4 leading to out-of-frame deletion causing premature stop codon (denoted splice variant “Apollo-Δ”) No molecular origin of splice variant could be identified and only linked to HH is by this one reported patient and the known DCLRE1B (SNM1B) role in telomere protection.
Sources: Literature
Bone Marrow Failure v1.7 MPL Zornitza Stark Phenotypes for gene: MPL were changed from Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR to Myelofibrosis with myeloid metaplasia, somatic, MIM#254450; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
Bone Marrow Failure v1.6 MPL Zornitza Stark edited their review of gene: MPL: Changed phenotypes: Myelofibrosis with myeloid metaplasia, somatic, MIM#254450, Thrombocythemia 2, MIM#601977, AD, SMu, Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
Bone Marrow Failure v0.282 PALB2 Zornitza Stark Phenotypes for gene: PALB2 were changed from to Fanconi anaemia, complementation group N, MIM# 610832
Bone Marrow Failure v0.260 FANCG Zornitza Stark Phenotypes for gene: FANCG were changed from to Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565
Bone Marrow Failure v0.257 FANCF Zornitza Stark Phenotypes for gene: FANCF were changed from to Fanconi anaemia, complementation group F 603467; MONDO:0011325
Bone Marrow Failure v0.252 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from to Fanconi anaemia, complementation group B, MIM# 300514
Bone Marrow Failure v0.249 FANCB Zornitza Stark reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15502827; Phenotypes: Fanconi anaemia, complementation group B, MIM# 300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.235 BRIP1 Zornitza Stark Phenotypes for gene: BRIP1 were changed from to Fanconi anaemia, complementation group J, MIM# 609054
Bone Marrow Failure v0.232 BRIP1 Zornitza Stark reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27107905; Phenotypes: Fanconi anaemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.232 BRCA2 Zornitza Stark Phenotypes for gene: BRCA2 were changed from to Fanconi anaemia, complementation group D1, MIM# 605724
Bone Marrow Failure v0.230 BRCA2 Zornitza Stark reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D1, MIM# 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.215 FANCL Zornitza Stark Phenotypes for gene: FANCL were changed from to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566
Bone Marrow Failure v0.212 FANCL Zornitza Stark reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19405097, 25754594, 33394227, 33224012; Phenotypes: Fanconi anemia, complementation group L, MIM# 614083, MONDO:0013566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.212 FANCI Zornitza Stark Phenotypes for gene: FANCI were changed from to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186
Bone Marrow Failure v0.209 FANCI Zornitza Stark reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: None; Publications: 17452773; Phenotypes: Fanconi anemia, complementation group I, MIM# 609053, MONDO:0012186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.209 FANCE Zornitza Stark Phenotypes for gene: FANCE were changed from to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953
Bone Marrow Failure v0.206 FANCE Zornitza Stark reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11001585, 31586946, 7662964, 9382107, 9147877, 10205272; Phenotypes: Fanconi anaemia, complementation group E, MIM# 600901, MONDO:0010953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.206 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214
Bone Marrow Failure v0.203 FANCD2 Zornitza Stark reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17436244; Phenotypes: Fanconi anaemia, complementation group D2, MIM# 227646, MONDO:0009214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.203 FANCC Zornitza Stark Phenotypes for gene: FANCC were changed from to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213
Bone Marrow Failure v0.200 FANCC Zornitza Stark reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31044565, 30792206, 28717661; Phenotypes: Fanconi anemia, complementation group C, MIM# 227645, MONDO:0009213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.200 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Bone Marrow Failure v0.197 FANCA Zornitza Stark reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.161 XRCC2 Zornitza Stark Phenotypes for gene: XRCC2 were changed from to Fanconi anemia, complementation group U, MIM# 617247
Bone Marrow Failure v0.157 XRCC2 Zornitza Stark reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27208205, 22232082, 11118202; Phenotypes: Fanconi anemia, complementation group U, MIM# 617247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.145 SLX4 Zornitza Stark Phenotypes for gene: SLX4 were changed from to Fanconi anemia, complementation group P, MIM# 613951
Bone Marrow Failure v0.142 SLX4 Zornitza Stark reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21240275, 21240277; Phenotypes: Fanconi anemia, complementation group P, MIM# 613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.91 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from to Fanconi anemia, complementation group Q, MIM# 615272
Bone Marrow Failure v0.88 ERCC4 Zornitza Stark reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623386; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.78 RAD51C Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anemia, complementation group O, MIM# 613390
Bone Marrow Failure v0.75 RAD51C Zornitza Stark reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: None; Publications: 20400963, 29278735; Phenotypes: Fanconi anemia, complementation group O, MIM# 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.74 UBE2T Zornitza Stark edited their review of gene: UBE2T: Added comment: Additional family reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 26046368, 32646888; Changed phenotypes: Fanconi anemia, complementation group T, MIM# 616435
Bone Marrow Failure v0.74 MPL Zornitza Stark Marked gene: MPL as ready
Bone Marrow Failure v0.74 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Bone Marrow Failure v0.74 MPL Zornitza Stark Phenotypes for gene: MPL were changed from to Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
Bone Marrow Failure v0.73 MPL Zornitza Stark Publications for gene: MPL were set to
Bone Marrow Failure v0.72 MPL Zornitza Stark Mode of inheritance for gene: MPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.71 MPL Zornitza Stark reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 28955303, 26423830; Phenotypes: Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503, Thrombocythemia 2, MIM#601977, AD, SMu, Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.52 RFWD3 Zornitza Stark gene: RFWD3 was added
gene: RFWD3 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFWD3 were set to 28691929
Phenotypes for gene: RFWD3 were set to Fanconi anemia, complementation group W, MIM# 617784
Review for gene: RFWD3 was set to RED
Added comment: Single family reported, functional data
Sources: Expert list
Bone Marrow Failure v0.51 MAD2L2 Zornitza Stark gene: MAD2L2 was added
gene: MAD2L2 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAD2L2 were set to 27500492
Phenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# 617243
Review for gene: MAD2L2 was set to RED
Added comment: Single family reported.
Sources: Expert list
Bone Marrow Failure v0.49 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE2T were set to 26046368
Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, MIM# 616435
Review for gene: UBE2T was set to AMBER
Added comment: Two unrelated families reported, one of the variants was a large deletion.
Sources: Expert list
Bone Marrow Failure v0.47 BRCA1 Zornitza Stark gene: BRCA1 was added
gene: BRCA1 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA1 were set to 23269703; 29133208; 25472942; 29712865
Phenotypes for gene: BRCA1 were set to Fanconi anemia, complementation group S, MIM# 617883
Review for gene: BRCA1 was set to GREEN
Added comment: At least 5 unrelated families with bi-allelic variants reported and FA phenotype.
Sources: Expert list
Bone Marrow Failure v0.0 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MPL was set to Unknown