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| Intellectual disability syndromic and non-syndromic v0.5145 | CDK16 | Zornitza Stark Publications for gene: CDK16 were set to 25644381 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5143 | CDK16 | Alison Yeung Phenotypes for gene: CDK16 were changed from Neurodevelopmental disorder (MONDO#0700092) CDK16-related to Neurodevelopmental disorder (MONDO#0700092) CDK16-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5142 | CDK16 | Alison Yeung Phenotypes for gene: CDK16 were changed from Intellectual disability to Neurodevelopmental disorder (MONDO#0700092) CDK16-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5141 | CDK16 | Alison Yeung Classified gene: CDK16 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5141 | CDK16 | Alison Yeung Gene: cdk16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5139 | CDK16 |
Belinda Chong changed review comment from: Total of 3 families with ID 1 with ASD. PMID 36323681: Identified a nonsense variant (c.961 G > T, p.(Glu321*)) in a 42-year-old patient with ID and spasticity. A missense variant (c.1039G > T, p.(Gly347Cys)) affecting a highly conserved amino acid of the kinase domain (CADD PHRED score: 32) was identified by genome sequencing in a male patient with ID, ASD, and epilepsy, whose family history was compatible with X-linked inheritance. PMID 31981491: In addition, a nonsense variant (c.46C > T, p.(Arg16*)) was recently reported in a patient with ASD. PMID 25644381: Single family described in this manuscript describing multiple candidate genes for XLID.; to: 3 families with ID 1 with ASD. PMID 36323681: Identified a nonsense variant (c.961 G > T, p.(Glu321*)) in a 42-year-old patient with ID and spasticity. A missense variant (c.1039G > T, p.(Gly347Cys)) affecting a highly conserved amino acid of the kinase domain (CADD PHRED score: 32) was identified by genome sequencing in a male patient with ID, ASD, and epilepsy, whose family history was compatible with X-linked inheritance. PMID 31981491: In addition, a nonsense variant (c.46C > T, p.(Arg16*)) was recently reported in a patient with ASD. PMID 25644381: Single family described in this manuscript describing multiple candidate genes for XLID. |
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| Intellectual disability syndromic and non-syndromic v0.5139 | CDK16 |
Belinda Chong changed review comment from: Total of 3 families with ID i with ASD. PMID 36323681: Identified a nonsense variant (c.961 G > T, p.(Glu321*)) in a 42-year-old patient with ID and spasticity. A missense variant (c.1039G > T, p.(Gly347Cys)) affecting a highly conserved amino acid of the kinase domain (CADD PHRED score: 32) was identified by genome sequencing in a male patient with ID, ASD, and epilepsy, whose family history was compatible with X-linked inheritance. PMID 31981491: In addition, a nonsense variant (c.46C > T, p.(Arg16*)) was recently reported in a patient with ASD. PMID 25644381: Single family described in this manuscript describing multiple candidate genes for XLID.; to: Total of 3 families with ID 1 with ASD. PMID 36323681: Identified a nonsense variant (c.961 G > T, p.(Glu321*)) in a 42-year-old patient with ID and spasticity. A missense variant (c.1039G > T, p.(Gly347Cys)) affecting a highly conserved amino acid of the kinase domain (CADD PHRED score: 32) was identified by genome sequencing in a male patient with ID, ASD, and epilepsy, whose family history was compatible with X-linked inheritance. PMID 31981491: In addition, a nonsense variant (c.46C > T, p.(Arg16*)) was recently reported in a patient with ASD. PMID 25644381: Single family described in this manuscript describing multiple candidate genes for XLID. |
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| Intellectual disability syndromic and non-syndromic v0.5138 | CDK16 |
Belinda Chong commented on gene: CDK16: Total of 3 families with ID i with ASD. PMID 36323681: Identified a nonsense variant (c.961 G > T, p.(Glu321*)) in a 42-year-old patient with ID and spasticity. A missense variant (c.1039G > T, p.(Gly347Cys)) affecting a highly conserved amino acid of the kinase domain (CADD PHRED score: 32) was identified by genome sequencing in a male patient with ID, ASD, and epilepsy, whose family history was compatible with X-linked inheritance. PMID 31981491: In addition, a nonsense variant (c.46C > T, p.(Arg16*)) was recently reported in a patient with ASD. PMID 25644381: Single family described in this manuscript describing multiple candidate genes for XLID. |
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| Intellectual disability syndromic and non-syndromic v0.5138 | CDK16 | Belinda Chong reviewed gene: CDK16: Rating: GREEN; Mode of pathogenicity: None; Publications: 36323681, 31981491, 25644381; Phenotypes: Neurodevelopmental disorder (MONDO#0700092) CDK16-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.773 | CDK16 | Zornitza Stark Marked gene: CDK16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.773 | CDK16 | Zornitza Stark Gene: cdk16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.773 | CDK16 | Zornitza Stark Phenotypes for gene: CDK16 were changed from to Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.772 | CDK16 | Zornitza Stark Publications for gene: CDK16 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.771 | CDK16 | Zornitza Stark Mode of inheritance for gene: CDK16 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.770 | CDK16 | Zornitza Stark Classified gene: CDK16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.770 | CDK16 | Zornitza Stark Gene: cdk16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6 | CDK16 | Zornitza Stark reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: None; Publications: 25644381; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | CDK16 |
Zornitza Stark gene: CDK16 was added gene: CDK16 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDK16 was set to Unknown |
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