Activity
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19 actions
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| Multi locus imprinting disorders v1.14 | OOEP |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene is rated red on this panel after seeking clinical opinion from Helen Brittain. This is a maternal effect gene with similar genotypes causing different phenotypes. In PMID:29574422, a homozygous variant in mother resulted in a phenotype suggestive of MLID in the offspring, who was heterozygous for the same variant. The current standard testing for this type of finding appears to be MLID methylation test in the proband. In addition, this family is from South East Asian descent and this ethnicity is under-represented in population cohorts raising the question whether the variant might not be responsible for the clinical presentation. In PMID:35946397, compound heterozygous variants (one of these variants is the same as the homozygous variant above) resulted in recurrent preimplantation embryonic arrest in the patient, which is a different phenotype from the one above. In addition, this phenotype does not clearly lead to inclusion in any current panels within the Genomic Medicine Service.; to: Comment on list classification: This gene is rated red on this panel after seeking clinical opinion from Helen Brittain. This is a maternal effect gene with similar genotypes causing different phenotypes. In PMID:29574422, a homozygous variant in mother resulted in a phenotype suggestive of MLID in the offspring, who was heterozygous for the same variant. The current standard testing for this type of finding appears to be MLID methylation test in the proband. In addition, this family is from South East Asian descent and this ethnicity is under-represented in population cohorts raising the question whether the variant might not be responsible for the clinical presentation. In PMID:35946397, compound heterozygous variants (one of these variants is the same as the homozygous variant above) resulted in recurrent preimplantation embryonic arrest in the patient, which is a different phenotype from the one above. In addition, this phenotype does not clearly lead to inclusion in any current panels within the Genomic Medicine Service. |
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| Multi locus imprinting disorders v1.14 | OOEP | Achchuthan Shanmugasundram Classified gene: OOEP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.14 | OOEP |
Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene is rated red on this panel after seeking clinical opinion from Helen Brittain. This is a maternal effect gene with similar genotypes causing different phenotypes. In PMID:29574422, a homozygous variant in mother resulted in a phenotype suggestive of MLID in the offspring, who was heterozygous for the same variant. The current standard testing for this type of finding appears to be MLID methylation test in the proband. In addition, this family is from South East Asian descent and this ethnicity is under-represented in population cohorts raising the question whether the variant might not be responsible for the clinical presentation. In PMID:35946397, compound heterozygous variants (one of these variants is the same as the homozygous variant above) resulted in recurrent preimplantation embryonic arrest in the patient, which is a different phenotype from the one above. In addition, this phenotype does not clearly lead to inclusion in any current panels within the Genomic Medicine Service. |
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| Multi locus imprinting disorders v1.14 | OOEP | Achchuthan Shanmugasundram Gene: ooep has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.13 | OOEP | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.13 | OOEP |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This is a maternal effect gene with similar genotypes causing different phenotypes. The homozygous variant in mother caused MLID in the offspring (PMID:29574422), and compound heterozygous variants (one of these variants is the same as the homozygous variant) caused recurrent preimplantation embryonic arrest. Hence, clinical opinion is being sought on the rating for this gene.; to: Comment on list classification: This gene is rated red on this panel after seeking clinical opinion from Helen Brittain. This is a maternal effect gene with similar genotypes causing different phenotypes. In PMID:29574422, a homozygous variant in mother resulted in a phenotype suggestive of MLID in the offspring, who was heterozygous for the same variant. The current standard testing for this type of finding appears to be MLID methylation test in the proaband. In PMID:35946397, compound heterozygous variants (one of these variants is the same as the homozygous variant above) caused recurrent preimplantation embryonic arrest in the patient, which is a different phenotype from the one above. In addition, Hence, clinical opinion is being sought on the rating for this gene. |
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| Multi locus imprinting disorders v1.13 | OOEP | Achchuthan Shanmugasundram Classified gene: OOEP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.13 | OOEP | Achchuthan Shanmugasundram Gene: ooep has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.12 | OOEP | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are two unrelated cases: one with homozygous, and another with compound heterozygous variants, where one of these is the same as the homozygous variant. There is also some functional evidence available. However, similar genotypes cause different phenotypes. Hence, seeking clinical opinion on this gene before making green. The 'watchlist' tag is therefore added to reflect this.; to: Comment on list classification: This is a maternal effect gene with similar genotypes causing different phenotypes. The homozygous variant in mother caused MLID in the offspring (PMID:29574422), and compound heterozygous variants (one of these variants is the same as the homozygous variant) caused recurrent preimplantation embryonic arrest. Hence, clinical opinion is being sought on the rating for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.12 | OOEP | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are two unrelated cases: one with homozygous, and another with compound heterozygous variants, where one of these is the same as the homozygous variant. There is also some functional evidence available. However, similar genotypes cause different phenotypes. Hence, seeking clinical opinion on this gene before making green. The 'watchlist' tag is therefore added to reflect this.; to: Comment on list classification: There are two unrelated cases: one with homozygous, and another with compound heterozygous variants, where one of these is the same as the homozygous variant. There is also some functional evidence available. However, similar genotypes cause different phenotypes. Hence, seeking clinical opinion on this gene before making green. The 'watchlist' tag is therefore added to reflect this. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.12 | OOEP | Achchuthan Shanmugasundram Tag watchlist was removed from gene: OOEP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.9 | OOEP | Achchuthan Shanmugasundram Classified gene: OOEP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.9 | OOEP | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases: one with homozygous, and another with compound heterozygous variants, where one of these is the same as the homozygous variant. There is also some functional evidence available. However, similar genotypes cause different phenotypes. Hence, seeking clinical opinion on this gene before making green. The 'watchlist' tag is therefore added to reflect this. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.9 | OOEP | Achchuthan Shanmugasundram Gene: ooep has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.8 | OOEP | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: OOEP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.8 | OOEP | Achchuthan Shanmugasundram Phenotypes for gene: OOEP were changed from MLID to Multi-locus imprinting disturbance (MLID) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.7 | OOEP | Achchuthan Shanmugasundram Publications for gene: OOEP were set to PMID: 39090763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.6 | OOEP | Achchuthan Shanmugasundram reviewed gene: OOEP: Rating: AMBER; Mode of pathogenicity: None; Publications: 29574422, 35946397, 39090763; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.6 | OOEP |
Dmitrijs Rots gene: OOEP was added gene: OOEP was added to Multi locus imprinting disorders. Sources: Expert list Mode of inheritance for gene: OOEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OOEP were set to PMID: 39090763 Phenotypes for gene: OOEP were set to MLID Penetrance for gene: OOEP were set to unknown Review for gene: OOEP was set to GREEN Added comment: Included in the guidelines for MLID:PMID: 39090763 Sources: Expert list |
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