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| Growth failure in early childhood v3.63 | SETD5 | Arina Puzriakova Phenotypes for gene: SETD5 were changed from Mental retardation, autosomal dominant 23, OMIM:615761; growth retardation; bone fragility to Intellectual developmental disorder, autosomal dominant 23, OMIM:615761 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.33 | SETD5 |
Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: SETD5. Tag Q4_21_rating was removed from gene: SETD5. Tag Q4_21_phenotype was removed from gene: SETD5. |
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| Growth failure in early childhood v2.33 | SETD5 | Catherine Snow commented on gene: SETD5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.110 | SETD5 | Eleanor Williams Tag Q4_21_rating tag was added to gene: SETD5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.90 | SETD5 |
Ivone Leong Tag Q4_21_expert_review tag was added to gene: SETD5. Tag Q4_21_phenotype tag was added to gene: SETD5. |
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| Growth failure in early childhood v1.90 | SETD5 | Ivone Leong Classified gene: SETD5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.90 | SETD5 | Ivone Leong Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is associated with a phenotype in OMIM and Gene2Phenotype (confirmed). As the severity of some of these cases were not stated in the publications, this gene has been added to the panel as Amber and have been flagged to be reviewed by the GMS expert review panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.90 | SETD5 | Ivone Leong Gene: setd5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.89 | SETD5 | Ivone Leong Phenotypes for gene: SETD5 were changed from Mental retardation, autosomal dominant 23, OMIM:615761 to Mental retardation, autosomal dominant 23, OMIM:615761; growth retardation; bone fragility | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.88 | SETD5 | Ivone Leong Phenotypes for gene: SETD5 were changed from intellectual disability; developmental delay; growth retardation; bone fragility to Mental retardation, autosomal dominant 23, OMIM:615761 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.87 | SETD5 | Ivone Leong Publications for gene: SETD5 were set to PMID: 28881385 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.71 | SETD5 |
Dmitrijs Rots gene: SETD5 was added gene: SETD5 was added to Growth failure in early childhood. Sources: Literature Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETD5 were set to PMID: 28881385 Phenotypes for gene: SETD5 were set to intellectual disability; developmental delay; growth retardation; bone fragility Penetrance for gene: SETD5 were set to Incomplete Review for gene: SETD5 was set to GREEN Added comment: In 13/25 published cases in the literature (sumarized in PMID: 28881385), growth retardation is reported. Additionally, two cases with bone fragility reported PMID: 34169511. Sources: Literature |
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