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| Autism v0.28 | RAB39B |
Achchuthan Shanmugasundram changed review comment from: Comment on classification: This gene should be considered for promotion to green rating by the NHS GMS, as there are sufficient cases (>3 unrelated cases) were identified with RAB39B variants and implicated in autism. In addition, there is ample of functional evidence available including studies from mouse knockout models. PMID:20159109 reported two out of four brothers with RAB39B variant from family X (D-23) and one patient from MRX72 family were reported with autism spectrum disorder (ASD), while all patients were mentally retarded. PMID:29152164 reported two males from the same family identified with RAB39B variant and diagnosed with macrocephaly, intellectual disability (ID) and ASD, while their female sibling with the same mutation presented with ID and a broad autism phenotype. PMID:32873259 report a seven year old boy with a RAB39B variant (c.436_447del) and a concurrent heterozygous NF1 variant (c.6579+2T>C) was presented with multiple café-au-lait macules (CALMs) and freckling, severe macrocephaly, peculiar facial gestalt, severe ID with absent speech, epilepsy, autistic traits, self-harming, and aggressiveness. PMID:34761259 reports a novel RAB39B nonstop variant (Xq28; c.640 T > C; p.(*214Glnext*21)) in a family where two brothers were diagnosed with ASD, severe (level 3) ID, hypotonia, language impairment and poor motor coordination.; to: Comment on classification: This gene should be rated green, as there are sufficient cases (>3 unrelated cases) were identified with RAB39B variants and implicated in autism. In addition, there is ample of functional evidence available including studies from mouse knockout models. PMID:20159109 reported two out of four brothers with RAB39B variant from family X (D-23) and one patient from MRX72 family were reported with autism spectrum disorder (ASD), while all patients were mentally retarded. PMID:29152164 reported two males from the same family identified with RAB39B variant and diagnosed with macrocephaly, intellectual disability (ID) and ASD, while their female sibling with the same mutation presented with ID and a broad autism phenotype. PMID:32873259 report a seven year old boy with a RAB39B variant (c.436_447del) and a concurrent heterozygous NF1 variant (c.6579+2T>C) was presented with multiple café-au-lait macules (CALMs) and freckling, severe macrocephaly, peculiar facial gestalt, severe ID with absent speech, epilepsy, autistic traits, self-harming, and aggressiveness. PMID:34761259 reports a novel RAB39B nonstop variant (Xq28; c.640 T > C; p.(*214Glnext*21)) in a family where two brothers were diagnosed with ASD, severe (level 3) ID, hypotonia, language impairment and poor motor coordination. |
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| Autism v0.22 | TMPRSS9 | Arina Puzriakova Phenotypes for gene: TMPRSS9 were changed from autism spectrum disorder to Progressive intellectual and neurological deterioration; Global developmental delay; Intellectual disability; Autism; Epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.20 | TMPRSS9 | Arina Puzriakova reviewed gene: TMPRSS9: Rating: ; Mode of pathogenicity: None; Publications: 31943016; Phenotypes: Progressive intellectual and neurological deterioration, Global developmental delay, Intellectual disability, Autism, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.11 | LEP | Louise Daugherty reviewed gene: LEP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.7 | LEP | Louise Daugherty Source Expert Review Red was added to LEP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.6 | LEP |
Louise Daugherty gene: LEP was added gene: LEP was added to Autism. Sources: SFARI Mode of inheritance for gene: LEP was set to |
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