| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v2.502 | DCTN4 | Rylee Peters Marked gene: DCTN4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.502 | DCTN4 | Rylee Peters Gene: dctn4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.502 | DCTN4 | Rylee Peters Classified gene: DCTN4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.502 | DCTN4 | Rylee Peters Gene: dctn4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.501 | DCTN4 |
Rylee Peters gene: DCTN4 was added gene: DCTN4 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DCTN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DCTN4 were set to 42378292 Phenotypes for gene: DCTN4 were set to Neurodevelopmental disorder, MONDO:0700092, DCTN4-related Review for gene: DCTN4 was set to AMBER Added comment: PMID:42378292 describes two unrelated families with ID, language impairment and cognitive dysfunction. One individual harboured a de novo nonsense variant, p.Tyr240*, absent from gnomAD. A second had an inherited p.Gln268Arg missense variant (affected parent), also absent from gnomAD; brain MRI in the proband and parent showed brain anomalies. Two additional unrelated individuals with developmental delay carried de novo missense variants, p.Arg115His (34 heterozygotes in gnomAD) and p.Arg238Cys (absent from gnomAD). Functional evidence: A Y240X mouse model showed embryonic lethality in homozygotes, while heterozygotes had ~50% reduction in DCN4 mRNA, impaired synaptic development and significantly reduced learning ability. Sources: Literature |
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| Mendeliome v2.0 | DCT | Gene migrated from ENSG00000080166 to ENSG00000080166 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13895 | DCTN1 | Zornitza Stark Marked gene: DCTN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13895 | DCTN1 | Zornitza Stark Gene: dctn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13895 | DCTN1 | Zornitza Stark Phenotypes for gene: DCTN1 were changed from to Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641; MONDO:0011879; Perry syndrome, MIM# 168605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13894 | DCTN1 | Zornitza Stark Publications for gene: DCTN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13893 | DCTN1 | Zornitza Stark Mode of inheritance for gene: DCTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13892 | DCTN1 | Zornitza Stark edited their review of gene: DCTN1: Changed phenotypes: Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641, MONDO:0011879, Perry syndrome, MIM# 168605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6148 | DCT | Zornitza Stark Marked gene: DCT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6148 | DCT | Zornitza Stark Gene: dct has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6148 | DCT | Zornitza Stark Classified gene: DCT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6148 | DCT | Zornitza Stark Gene: dct has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6147 | DCT |
Zornitza Stark gene: DCT was added gene: DCT was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCT were set to 33100333 Phenotypes for gene: DCT were set to Oculocutaneous albinism, type VIII, MIM# 619165 Review for gene: DCT was set to GREEN Added comment: Two unrelated families reported. Functional data including mouse model. Sources: Expert list |
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| Mendeliome v0.0 | DCTN1 |
Zornitza Stark gene: DCTN1 was added gene: DCTN1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DCTN1 was set to Unknown |
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