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| Mendeliome v0.5381 | LRIF1 |
Bryony Thompson changed review comment from: A single consanguineous case with a homozygous truncating variant. DZ4Z hypomethylation and increased DUX expression was present in patient cells. siRNA-mediated depletion of LRIF1L in immortalized myoblasts derepressed the DUX4 locus. Sources: Literature; to: A single consanguineous case with a homozygous truncating variant, and D4Z4 repeat of 13 units on a 4qA haplotype (permissive haplotype). DZ4Z hypomethylation and increased DUX expression was present in patient cells. siRNA-mediated depletion of LRIF1L in immortalized myoblasts derepressed the DUX4 locus. Sources: Literature |
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| Mendeliome v0.5380 | LRIF1 |
Bryony Thompson gene: LRIF1 was added gene: LRIF1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: LRIF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRIF1 were set to 32467133 Phenotypes for gene: LRIF1 were set to Facioscapulohumeral muscular dystrophy Review for gene: LRIF1 was set to AMBER Added comment: A single consanguineous case with a homozygous truncating variant. DZ4Z hypomethylation and increased DUX expression was present in patient cells. siRNA-mediated depletion of LRIF1L in immortalized myoblasts derepressed the DUX4 locus. Sources: Literature |
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| Mendeliome v0.2449 | SMCHD1 | Zornitza Stark Added comment: Comment when marking as ready: Note association with FSHD2 is postulated to have digenic inheritance, caused by the combination of a heterozygous mutation in the SMCHD1 gene (614982) on chromosome 18p and presence of a haplotype on chromosome 4 that is permissive for DUX4 (606009) expression. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1408 | DUX4 | Zornitza Stark Tag SV/CNV tag was added to gene: DUX4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1408 | DUX4 | Zornitza Stark Marked gene: DUX4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1408 | DUX4 | Zornitza Stark Gene: dux4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1408 | DUX4 | Zornitza Stark Phenotypes for gene: DUX4 were changed from to Fascioscapulohumeral muscular dystrophy, MIM#158900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1407 | DUX4 | Zornitza Stark Mode of inheritance for gene: DUX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1406 | DUX4 | Zornitza Stark Classified gene: DUX4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1406 | DUX4 | Zornitza Stark Gene: dux4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1405 | DUX4 | Zornitza Stark reviewed gene: DUX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fascioscapulohumeral muscular dystrophy, MIM#158900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | DUX4 |
Zornitza Stark gene: DUX4 was added gene: DUX4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DUX4 was set to Unknown |
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