Paediatric disorders - additional genes
Gene: SIX2
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 10:54 a.m. | Last Modified: 31 Jan 2023, 10:54 a.m.
Panel Version: 2.7
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.Created: 19 Jul 2022, 2:22 p.m. | Last Modified: 19 Jul 2022, 2:31 p.m.
Panel Version: 1.103
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 19 Jul 2022, 2:14 p.m. | Last Modified: 19 Jul 2022, 2:14 p.m.
Panel Version: 1.102
Phenotypes
six2-related frontonasal dysplasia, MONDO:0044628
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: LiteratureCreated: 28 May 2022, 10:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Frontonasal dysplasia; ptosis; hearing loss
Publications
Tag gene-checked tag was added to gene: SIX2.
Tag Q3_22_rating was removed from gene: SIX2. Tag Q3_22_NHS_review was removed from gene: SIX2.
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)
Tag structural-variant tag was added to gene: SIX2.
Phenotypes for gene: SIX2 were changed from Frontonasal dysplasia; ptosis; hearing loss to six2-related frontonasal dysplasia, MONDO:0044628
Gene: six2 has been classified as Amber List (Moderate Evidence).
Tag Q3_22_rating tag was added to gene: SIX2. Tag Q3_22_NHS_review tag was added to gene: SIX2.
Publications for gene: SIX2 were set to PMID: 27383657; 29315086; 26581443
Gene: six2 has been classified as Amber List (Moderate Evidence).
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