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| Mendeliome v1.3283 | BCL11B | Zornitza Stark Publications for gene: BCL11B were set to 29985992 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3241 | BCL11B | Sarah Milton reviewed gene: BCL11B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40033098, 37860968, 37337996; Phenotypes: Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities, MONDO:0060763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.230 | BCL11B | Zornitza Stark Marked gene: BCL11B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.230 | BCL11B | Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.230 | BCL11B | Zornitza Stark Classified gene: BCL11B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.230 | BCL11B | Zornitza Stark Gene: bcl11b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.229 | BCL11B |
Zornitza Stark gene: BCL11B was added gene: BCL11B was added to Mendeliome_VCGS. Sources: Literature Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BCL11B were set to 29985992 Phenotypes for gene: BCL11B were set to Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092 Review for gene: BCL11B was set to GREEN Added comment: Nine unrelated individuals, all but one with de novo variants in this gene and syndromic ID/immunodeficiency. Most variants located in the last exon (exon 4) and are predicted to escape nonsense-mediated mRNA decay. Sources: Literature |
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