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| Paediatric disorders - additional genes v2.7 | SIX2 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SIX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v2.7 | SIX2 |
Arina Puzriakova Tag Q3_22_rating was removed from gene: SIX2. Tag Q3_22_NHS_review was removed from gene: SIX2. |
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| Paediatric disorders - additional genes v2.7 | SIX2 | Arina Puzriakova reviewed gene: SIX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v2.6 | SIX2 |
Arina Puzriakova Source Expert Review Green was added to SIX2. Source NHS GMS was added to SIX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric disorders - additional genes v1.103 | SIX2 | Sarah Leigh changed review comment from: Not associated with a phenotype in OMIM or Gen2Phen, but it is associated with six2-related frontonasal dysplasia in MONDO / ORPHA:488437. At least 4 unrelated cases of haplosufficiency of SIX2 have been reported (three published and one in a patient reported by Julie Evans (South West Genomic Laboratory Hub)).; to: Not associated with a phenotype in OMIM or Gen2Phen, but it is associated with six2-related frontonasal dysplasia in MONDO / ORPHA:488437. At least 4 unrelated cases of haplosufficiency of SIX2 have been reported (three published and one in a patient reported by Julie Evans (South West Genomic Laboratory Hub)). So far the variants associated with SIX2 are deletions of varying sizes, with the common feature that they all encompass the SIX2 locus. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.103 | SIX2 | Sarah Leigh Tag structural-variant tag was added to gene: SIX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.103 | SIX2 | Sarah Leigh Phenotypes for gene: SIX2 were changed from Frontonasal dysplasia; ptosis; hearing loss to six2-related frontonasal dysplasia, MONDO:0044628 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.102 | SIX2 | Sarah Leigh edited their review of gene: SIX2: Added comment: Not associated with a phenotype in OMIM or Gen2Phen, but it is associated with six2-related frontonasal dysplasia in MONDO / ORPHA:488437. At least 4 unrelated cases of haplosufficiency of SIX2 have been reported (three published and one in a patient reported by Julie Evans (South West Genomic Laboratory Hub)).; Changed rating: GREEN; Changed phenotypes to: six2-related frontonasal dysplasia, MONDO:0044628 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.102 | SIX2 | Sarah Leigh Classified gene: SIX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.102 | SIX2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.102 | SIX2 | Sarah Leigh Gene: six2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.101 | SIX2 |
Sarah Leigh Tag Q3_22_rating tag was added to gene: SIX2. Tag Q3_22_NHS_review tag was added to gene: SIX2. |
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| Paediatric disorders - additional genes v1.101 | SIX2 | Sarah Leigh Publications for gene: SIX2 were set to PMID: 27383657; 29315086; 26581443 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.100 | SIX2 | Sarah Leigh Classified gene: SIX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.100 | SIX2 | Sarah Leigh Gene: six2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.97 | SIX2 |
Julie Evans gene: SIX2 was added gene: SIX2 was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: SIX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SIX2 were set to PMID: 27383657; 29315086; 26581443 Phenotypes for gene: SIX2 were set to Frontonasal dysplasia; ptosis; hearing loss Penetrance for gene: SIX2 were set to unknown Review for gene: SIX2 was set to GREEN Added comment: We have a patient with a de novo deletion of the whole SIX2 gene with a compatible phenotype to the published cases (hypertelorism, ptosis, conductive hearing loss, large fontanelle). Sources: Literature |
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