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| Severe microcephaly v4.44 | NSD2 |
Sarah Leigh changed review comment from: Microcephaly is well recognized as a feature associated with pathogenic NSD2 variants. Of the published reports of microcephaly 50% (7/14) can be regarded as being severe, with a occipitofrontal circumference (OFC) below -3.0 standard deviations below the mean for age (PMID: 33941880 (including a review of previously published reports S4 table, PMID: 33276791).; to: Microcephaly is well recognized as a feature associated with pathogenic NSD2 variants. PMID: 33941880 reports three NSD2 variants in three unrelated cases of Rauch-Steindl syndrome (OMIM:619695), who have severe microcephaly (Occipitofrontal circumference (OFC) below >3.0 SD). Similarly, PMID: 33276791 reports a case with OFC of 44 cm (<−3SD). Further cases are examined in the supplementary table 4 in PMID: 33941880 |
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| Severe microcephaly v4.44 | NSD2 | Sarah Leigh Classified gene: NSD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.44 | NSD2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.44 | NSD2 | Sarah Leigh Gene: nsd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.43 | NSD2 | Sarah Leigh Tag Q4_23_promote_green tag was added to gene: NSD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.43 | NSD2 | Sarah Leigh reviewed gene: NSD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.43 | NSD2 | Sarah Leigh Phenotypes for gene: NSD2 were changed from microcephaly, MONDO:0001149 to Rauch-Steindl syndrome, OMIM:619695; Rauch-Steindl syndrome, MONDO:0859219 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.42 | NSD2 | Sarah Leigh Publications for gene: NSD2 were set to 30345613; 31171569; 29760529; 29892088 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.236 | NSD2 | Ivone Leong Classified gene: NSD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.236 | NSD2 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases associated with this gene; however, the severity of microcephaly in these cases do not satisfy our criteria for severe microcephaly. Therefore, this gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.236 | NSD2 | Ivone Leong Gene: nsd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.235 | NSD2 | Ivone Leong Publications for gene: NSD2 were set to 30345613; 31171569 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.234 | NSD2 | Ivone Leong Phenotypes for gene: NSD2 were changed from microcephaly; intellectual disability to microcephaly, MONDO:0001149 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.19 | NSD2 |
Zornitza Stark gene: NSD2 was added gene: NSD2 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NSD2 were set to 30345613; 31171569 Phenotypes for gene: NSD2 were set to microcephaly; intellectual disability Review for gene: NSD2 was set to GREEN Added comment: Microcephaly reported in 6 of 7 individuals with LOF variants in this gene. Sources: Expert list |
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