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Bone Marrow Failure v1.105 ZCCHC8 Zornitza Stark Publications for gene: ZCCHC8 were set to 31488579; 38375433
Bone Marrow Failure v1.104 ZCCHC8 Zornitza Stark Publications for gene: ZCCHC8 were set to 31488579
Bone Marrow Failure v1.103 ZCCHC8 Zornitza Stark Classified gene: ZCCHC8 as Green List (high evidence)
Bone Marrow Failure v1.103 ZCCHC8 Zornitza Stark Gene: zcchc8 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.102 ZCCHC8 Zornitza Stark reviewed gene: ZCCHC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31488579, 38375433; Phenotypes: pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 MONDO:0032865; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v1.40 ZCCHC8 Bryony Thompson Marked gene: ZCCHC8 as ready
Bone Marrow Failure v1.40 ZCCHC8 Bryony Thompson Gene: zcchc8 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.40 ZCCHC8 Bryony Thompson Classified gene: ZCCHC8 as Amber List (moderate evidence)
Bone Marrow Failure v1.40 ZCCHC8 Bryony Thompson Gene: zcchc8 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.39 ZCCHC8 Bryony Thompson gene: ZCCHC8 was added
gene: ZCCHC8 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: ZCCHC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZCCHC8 were set to 31488579
Phenotypes for gene: ZCCHC8 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148
Review for gene: ZCCHC8 was set to AMBER
Added comment: A missense variant (P186L) segregates over 3 generations in a single family, and supporting in vitro assays and mouse model.
Sources: Literature