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Mendeliome v2.503 MYB Zornitza Stark Classified gene: MYB as Amber List (moderate evidence)
Mendeliome v2.503 MYB Zornitza Stark Gene: myb has been classified as Amber List (Moderate Evidence).
Mendeliome v2.349 MYB Zornitza Stark Marked gene: MYB as ready
Mendeliome v2.349 MYB Zornitza Stark Gene: myb has been classified as Green List (High Evidence).
Mendeliome v2.349 MYB Zornitza Stark Classified gene: MYB as Green List (high evidence)
Mendeliome v2.349 MYB Zornitza Stark Gene: myb has been classified as Green List (High Evidence).
Mendeliome v2.336 MYB Achchuthan Shanmugasundram gene: MYB was added
gene: MYB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MYB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYB were set to 20130238; 27577878; 29654210; 36168523
Phenotypes for gene: MYB were set to combined immunodeficiency, MONDO:0015131
Review for gene: MYB was set to GREEN
Added comment: PMID:27577878 (2016) reported a cohort of patients with primary immunodeficiency diseases from 278 families from 22 countries investigated using whole-exome sequencing, of which one patient (8 year-old female) with immunodeficiency, progressive bone marrow failure, short stature and dysmorphic facial features were identified with a heterozygous 3.4Mb deletion on chromosome 6 including Myb gene.

PMID:36168523 (2022) reported two patients presenting with a combined deficiency phenotype ((B-cell lymphocytopenia, hypogammaglobulinemia) that progressed into severe bone marrow dysfunction. Patient 1 (a 22-year old male of Dutch descent) additionally showed telomere shortening and Case 2 ( of French-Canadian descent) developed autoimmune-like features (polyarthritis, granulomatous dermatitis). They both were identified with de novo heterozygous variants in DNA-binding domain of MYB gene using trio exome sequnecing (patient 1: c.545A>G/ p.Lys182Arg; patient 2: c.383A>G/ p.Lys128Arg). Functional evidence is available for patient 1 (T-cell phenotyping, RT-PCR, flow cytometry) showing altered Zeb2/c-Myb/Tcf7 expression, particularly in CD8+ T cells.

There is also evidence available from mice models - Homozygous null variants of MYB in mice were shown to be lethal. But, heterozygous, temporal and local null models of the DNA-binding domain exon in mice and human cell lines have shown that its product, the c-Myb transcription factor, is crucial for pro- and pre-B cell differentiation by controlling the expression of interleukin-7 receptor-α, and recombinase activating gene (Rag) and the initiation of survival signals (PMIDs: 20130238 (2010) & 29654210 (2019)).

In summary, there are two unrelated patients with heterozygous SNVs in Myb gene and functional evidence including mouse models available from literature in support of the association of Myb with combined immunodeficiency. Hence, this gene can be promoted to green rating.
Sources: Literature
Mendeliome v1.1976 MYBBP1A Zornitza Stark Marked gene: MYBBP1A as ready
Mendeliome v1.1976 MYBBP1A Zornitza Stark Gene: mybbp1a has been classified as Green List (High Evidence).
Mendeliome v1.1976 MYBBP1A Zornitza Stark Classified gene: MYBBP1A as Green List (high evidence)
Mendeliome v1.1976 MYBBP1A Zornitza Stark Gene: mybbp1a has been classified as Green List (High Evidence).
Mendeliome v1.1975 MYBBP1A Zornitza Stark gene: MYBBP1A was added
gene: MYBBP1A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MYBBP1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBBP1A were set to 39191491; 28425981
Phenotypes for gene: MYBBP1A were set to Hydrops fetalis, MONDO:0015193, MYBBP1A-related
Review for gene: MYBBP1A was set to GREEN
Added comment: Three unrelated fetuses with bi-allelic variants in this gene and severe hydrops.
Sources: Literature
Mendeliome v0.7973 MYBPC1 Zornitza Stark Marked gene: MYBPC1 as ready
Mendeliome v0.7973 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Green List (High Evidence).
Mendeliome v0.7973 MYBPC1 Zornitza Stark Phenotypes for gene: MYBPC1 were changed from to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, MIM# 614915; Myopathy, congenital, with tremor MIM#618524
Mendeliome v0.7972 MYBPC1 Zornitza Stark Publications for gene: MYBPC1 were set to
Mendeliome v0.7971 MYBPC1 Zornitza Stark Mode of inheritance for gene: MYBPC1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7970 MYBPC1 Zornitza Stark reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20045868, 22610851, 23873045, 26661508, 31264822, 31025394; Phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4, MIM# 614915, Myopathy, congenital, with tremor MIM#618524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.7945 MYBPC2 Zornitza Stark Marked gene: MYBPC2 as ready
Mendeliome v0.7945 MYBPC2 Zornitza Stark Gene: mybpc2 has been classified as Red List (Low Evidence).
Mendeliome v0.7945 MYBPC2 Zornitza Stark gene: MYBPC2 was added
gene: MYBPC2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MYBPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBPC2 were set to 32732226
Phenotypes for gene: MYBPC2 were set to Fetal akinesia; Hydrops; Hygroma; Multiple pterygium
Review for gene: MYBPC2 was set to RED
Added comment: Novel candidate gene identified in a fetus with fetal akinesia detected by ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, hygroma, multiple pterygium. A homozygous variant (c.3394G>A/ p.Glu1132Lys) in MYBPC2 was found by exome sequencing with concordant segregation among one affected sib and two unaffected sibs.
Sources: Literature
Mendeliome v0.3561 TRIM63 Ain Roesley gene: TRIM63 was added
gene: TRIM63 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRIM63 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM63 were set to 30681346; 32451364
Phenotypes for gene: TRIM63 were set to Hypertrophic cardiomyopathy
Penetrance for gene: TRIM63 were set to unknown
Review for gene: TRIM63 was set to GREEN
Added comment: PMID: 30681346;
LIMITED by Clingen working group (last evaluated 2018)

PMID: 32451364
- 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD.
- segregated in 3 families
- 1 index had another pathogenic truncating variant in MYBPC3
- 5 missense and 3 PTCs
- Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy
Sources: Literature
Mendeliome v0.0 MYBPC1 Zornitza Stark gene: MYBPC1 was added
gene: MYBPC1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYBPC1 was set to Unknown