Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.259 | SLITRK2 | Ida Ertmanska Phenotypes for gene: SLITRK2 were changed from to Intellectual developmental disorder, X-linked 111, OMIM:301107; intellectual developmental disorder, X-linked 111, MONDO:0957203 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.258 | SLITRK2 | Ida Ertmanska Publications for gene: SLITRK2 were set to PMID: 35840571 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.257 | SLITRK2 | Ida Ertmanska Classified gene: SLITRK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.257 | SLITRK2 | Ida Ertmanska Added comment: Comment on list classification: There are 8 unrelated individuals reported in literature with monoallelic variants in SLITRK2 and intellectual developmental disorder (7/8 are males). Several male patients inherited variants from unaffected heterozygous mothers. However, there is one heterozygous female reported with a de novo variants and a severe phenotype (severe ID, absent speech, seizures - PMID: 35840571). Thus, the MOI should be set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.257 | SLITRK2 | Ida Ertmanska Gene: slitrk2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.256 | SLITRK2 |
Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: SLITRK2. Tag Q1_26_NHS_review tag was added to gene: SLITRK2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.256 | SLITRK2 | Ida Ertmanska edited their review of gene: SLITRK2: Changed publications to: 35840571, 38283150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.256 | SLITRK2 | Ida Ertmanska reviewed gene: SLITRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35840571; Phenotypes: Intellectual developmental disorder, X-linked 111, OMIM:301107, intellectual developmental disorder, X-linked 111, MONDO:0957203; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.236 | SLITRK2 |
Mike Spiller gene: SLITRK2 was added gene: SLITRK2 was added to Intellectual disability. Sources: NHS GMS,Literature Mode of inheritance for gene: SLITRK2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SLITRK2 were set to PMID: 35840571 Review for gene: SLITRK2 was set to GREEN Added comment: Gene is associated with Intellectual developmental disorder, X-linked 111 (OMIM 301107). Association based on PMID: 35840571 - 7 probands, 6 male one female. Female de novo, males mix of de novo and maternally inherited. ID levels range from borderline-severe, 5 patients moderate-severe. One LOF, others missenses distributed through the gene. Missenses well supported by mouse data including inability to rescue KO phenotypes, as well as HEK293 transcfection studies.. Also 2 hemizygous LOF on CVA with consistent phenotypes (NHS GMS). Sources: NHS GMS, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||