| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Intellectual disability syndromic and non-syndromic v1.267 | WDR18 | Krithika Murali Marked gene: WDR18 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.267 | WDR18 | Krithika Murali Gene: wdr18 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.267 | WDR18 |
Krithika Murali gene: WDR18 was added gene: WDR18 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: WDR18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR18 were set to PMID: 40677927 Phenotypes for gene: WDR18 were set to Cornelia de Lange syndrome - MONDO:0016033 Review for gene: WDR18 was set to RED Added comment: PMID: 40677927 Ansari et al 2025 (Hum Mut) - performed short-read WGS on 108 individuals with suspected CdLS with no causative variant identified on previous genetic testing. In addition to variants in genes with known gene-disease associations, 5 de novo variants absent in gnomAD in 5 novel genes also identified in 5 unrelated individuals: - ARID3A (missense variant, REVEL 0.72) - PIK3C3 (missense, mechanistically not thought to be an obvious candidate gene for CdLS) - MCM7 (LoF variant, gene linked with cohesin complex) - MIS18BP1 (LoF variant, this individual also had a de novo intragenic deletion in PUF60) - WDR18 (missense variant, weak in silico, REVEL 0.268) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.266 | MIS18BP1 |
Krithika Murali gene: MIS18BP1 was added gene: MIS18BP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: MIS18BP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MIS18BP1 were set to PMID: 40677927 Phenotypes for gene: MIS18BP1 were set to Cornelia de Lange syndrome (MONDO:0016033) Review for gene: MIS18BP1 was set to RED Added comment: PMID: 40677927 Ansari et al 2025 (Hum Mut) - performed short-read WGS on 108 individuals with suspected CdLS with no causative variant identified on previous genetic testing. In addition to variants in genes with known gene-disease associations, 5 de novo variants absent in gnomAD in 5 novel genes also identified in 5 unrelated individuals: - ARID3A (missense variant, REVEL 0.72) - PIK3C3 (missense, mechanistically not thought to be an obvious candidate gene for CdLS) - MCM7 (LoF variant, gene linked with cohesin complex) - MIS18BP1 (LoF variant, this individual also had a de novo intragenic deletion in PUF60) - WDR18 (missense variant, weak in silico, REVEL 0.268) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.263 | ARID3A |
Zornitza Stark gene: ARID3A was added gene: ARID3A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ARID3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID3A were set to 40677927 Phenotypes for gene: ARID3A were set to Cornelia de Lange syndrome - MONDO:0016033 Review for gene: ARID3A was set to RED Added comment: PMID: 40677927 Ansari et al 2025 (Hum Mut) - performed short-read WGS on 108 individuals with suspected CdLS with no causative variant identified on previous genetic testing. In addition to variants in genes with known gene-disease associations, 5 de novo variants absent in gnomAD in 5 novel genes also identified in 5 unrelated individuals: - ARID3A (missense variant, REVEL 0.72) - PIK3C3 (missense, mechanistically not thought to be an obvious candidate gene for CdLS) - MCM7 (LoF variant, gene linked with cohesin complex) - MIS18BP1 (LoF variant, this individual also had a de novo intragenic deletion in PUF60) - WDR18 (missense variant, weak in silico, REVEL 0.268) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.262 | PIK3C3 |
Zornitza Stark gene: PIK3C3 was added gene: PIK3C3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: PIK3C3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3C3 were set to 40677927 Phenotypes for gene: PIK3C3 were set to Cornelia de Lange syndrome - MONDO:0016033 Review for gene: PIK3C3 was set to RED Added comment: PMID: 40677927 Ansari et al 2025 (Hum Mut) - performed short-read WGS on 108 individuals with suspected CdLS with no causative variant identified on previous genetic testing. In addition to variants in genes with known gene-disease associations, 5 de novo variants absent in gnomAD in 5 novel genes also identified in 5 unrelated individuals: - ARID3A (missense variant, REVEL 0.72) - PIK3C3 (missense, mechanistically not thought to be an obvious candidate gene for CdLS) - MCM7 (LoF variant, gene linked with cohesin complex) - MIS18BP1 (LoF variant, this individual also had a de novo intragenic deletion in PUF60) - WDR18 (missense variant, weak in silico, REVEL 0.268) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||