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| DDG2P v4.10 | NLGN4X | Achchuthan Shanmugasundram edited their review of gene: NLGN4X: Added comment: The DDG2P confidence category for the disease NLGN4X-related autism and intellectual disability, OMIM:300495 is strong. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product (PMID: 33369065;12669065;16648374;28263302;14963808;26350204;23352163;32243781).; Changed rating: GREEN; Changed publications to: 32243781, 33369065, 28263302, 14963808, 23352163, 16648374, 12669065, 26350204; Changed phenotypes to: SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2, OMIM:300495, NLGN4X-related autism and intellectual disability, OMIM:300495; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | NLGN4X |
Achchuthan Shanmugasundram Source Expert Review Green was added to NLGN4X. Mode of inheritance for gene NLGN4X was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | NLGN4X | Achchuthan Shanmugasundram reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2, OMIM:300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NLGN4X | Rebecca Foulger reviewed gene: NLGN4X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NLGN4X |
Rebecca Foulger gene: NLGN4X was added gene: NLGN4X was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NLGN4X were set to SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2 300495 |
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