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| Autism v0.31 | RAB39B | Achchuthan Shanmugasundram Phenotypes for gene: RAB39B were changed from to Intellectual developmental disorder, X-linked 72, OMIM:300271 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.30 | RAB39B | Achchuthan Shanmugasundram Mode of inheritance for gene: RAB39B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.29 | RAB39B | Achchuthan Shanmugasundram Classified gene: RAB39B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.29 | RAB39B | Achchuthan Shanmugasundram Gene: rab39b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.28 | RAB39B | Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: RAB39B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.28 | RAB39B | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.28 | RAB39B | Achchuthan Shanmugasundram Publications for gene: RAB39B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.27 | RAB39B | Achchuthan Shanmugasundram Classified gene: RAB39B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.27 | RAB39B | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has been promoted to amber and tagged for NHS GMS review as there is sufficient evidence available for promoting to green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.27 | RAB39B | Achchuthan Shanmugasundram Gene: rab39b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.26 | RAB39B | Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: RAB39B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.26 | RAB39B | Achchuthan Shanmugasundram reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20159109, 29152164, 32873259, 34761259; Phenotypes: Intellectual developmental disorder, X-linked 72, OMIM:300271; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.11 | RAB39B | Louise Daugherty reviewed gene: RAB39B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.7 | RAB39B | Louise Daugherty Source Expert Review Red was added to RAB39B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.6 | RAB39B |
Louise Daugherty gene: RAB39B was added gene: RAB39B was added to Autism. Sources: SFARI Mode of inheritance for gene: RAB39B was set to |
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