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| Intellectual disability syndromic and non-syndromic v0.5839 | PTCHD1 | Zornitza Stark Marked gene: PTCHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5839 | PTCHD1 | Zornitza Stark Gene: ptchd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5839 | PTCHD1 | Zornitza Stark Phenotypes for gene: PTCHD1 were changed from to non-syndromic X-linked intellectual disability MONDO:0019181 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5838 | PTCHD1 | Zornitza Stark Mode of inheritance for gene: PTCHD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5821 | PTCHD1 | Sangavi Sivagnanasundram reviewed gene: PTCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005921; Phenotypes: non-syndromic X-linked intellectual disability MONDO:0019181; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5662 | CACHD1 | Zornitza Stark Marked gene: CACHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5662 | CACHD1 | Zornitza Stark Gene: cachd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5662 | CACHD1 | Zornitza Stark Classified gene: CACHD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5662 | CACHD1 | Zornitza Stark Gene: cachd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5660 | CACHD1 |
Suliman Khan gene: CACHD1 was added gene: CACHD1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: CACHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACHD1 were set to PMID: 38158856 Phenotypes for gene: CACHD1 were set to syndromic complex neurodevelopmental disorder MONDO:0800439 Penetrance for gene: CACHD1 were set to unknown Review for gene: CACHD1 was set to GREEN Added comment: PMID: 38158856 - Six affected individuals from four unrelated families with homozygous CACHD1 variants (3 splice, 2 frameshift and 1 nonsense variant). Excluding the two fatal cases, all other were affected by syndromic neurodevelopmental abnormalities, multiple organ systems featuring global impairment of psychomotor development, dysmorphic facial features, genitourinary abnormalities, oculo-auricular and congenital malformation. Seizure was reported in one case. Whole exome sequencing identified bi-allelic loss of function variants in the CACHD1 gene. In vitro human neural models of CACHD1 depletion displayed dysregulated of Wnt signaling in the developing brain. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.1856 | CHD1 | Zornitza Stark edited their review of gene: CHD1: Added comment: Possible dominant negative mechanism: reported variants are missense, an individual with a deletion did not have a neurological phenotype.; Changed mode of pathogenicity: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1503 | SMCHD1 | Zornitza Stark Marked gene: SMCHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1503 | SMCHD1 | Zornitza Stark Gene: smchd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1234 | SMCHD1 | Chirag Patel Classified gene: SMCHD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1234 | SMCHD1 | Chirag Patel Gene: smchd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1233 | SMCHD1 |
Chirag Patel Source Genetic Health Queensland was removed from SMCHD1. Source Expert list was added to SMCHD1. Mode of inheritance for gene SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMCHD1 were changed from to Bosma arhinia microphthalmia syndrome, OMIM #603457; Fascioscapulohumeral muscular dystrophy 2, digenic; OMIM #158901 |
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| Intellectual disability syndromic and non-syndromic v0.1231 | SMCHD1 | Chirag Patel reviewed gene: SMCHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bosma arhinia microphthalmia syndrome, OMIM #603457, Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM #158901; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.618 | CHD1 | Zornitza Stark Marked gene: CHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.618 | CHD1 | Zornitza Stark Gene: chd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.618 | CHD1 | Zornitza Stark Classified gene: CHD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.618 | CHD1 | Zornitza Stark Gene: chd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.9 | CHD1 |
Zornitza Stark gene: CHD1 was added gene: CHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Literature Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD1 were set to 28866611 Phenotypes for gene: CHD1 were set to Pilarowski-Bjornsson syndrome, MIM#617682 Review for gene: CHD1 was set to GREEN Added comment: Six unrelated individuals with heterozygous variants reported. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMCHD1 |
Zornitza Stark gene: SMCHD1 was added gene: SMCHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMCHD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTCHD1 |
Zornitza Stark gene: PTCHD1 was added gene: PTCHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTCHD1 was set to Unknown |
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