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| Monogenic diabetes v2.57 | SMPD4 | Achchuthan Shanmugasundram Classified gene: SMPD4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.57 | SMPD4 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there are five individuals from three unrelated families with biallelic loss-of-function SMPD4 variants. They developed insulin-dependent diabetes, besides presenting with a severe neurodevelopmental disorder and microcephaly. In addition, review of past reports showed 27% of patients had insulin-dependent diabetes. This gene can therefore be promoted to green rating in the next GMS review. |
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| Monogenic diabetes v2.57 | SMPD4 | Achchuthan Shanmugasundram Gene: smpd4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.56 | SMPD4 | Achchuthan Shanmugasundram Phenotypes for gene: SMPD4 were changed from NDD, microcephaly and diabetes to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622; type 1 diabetes mellitus, MONDO:0005147 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.55 | SMPD4 | Achchuthan Shanmugasundram Publications for gene: SMPD4 were set to PMID: 36732302 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.54 | SMPD4 | Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: SMPD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.54 | SMPD4 | Achchuthan Shanmugasundram edited their review of gene: SMPD4: Changed publications to: 36732302 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.54 | SMPD4 | Achchuthan Shanmugasundram reviewed gene: SMPD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622, type 1 diabetes mellitus, MONDO:0005147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.53 | SMPD4 |
Dmitrijs Rots gene: SMPD4 was added gene: SMPD4 was added to Monogenic diabetes. Sources: Literature Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD4 were set to PMID: 36732302 Phenotypes for gene: SMPD4 were set to NDD, microcephaly and diabetes Penetrance for gene: SMPD4 were set to Complete Review for gene: SMPD4 was set to AMBER Added comment: PMID: 36732302 reported three independent families with multiple affected individuals with biallelic SMPD4 variants with severe NDD and insulin-dependent diabetes. Given the syndromic presentation - not sure about the relevancy for the panel. Sources: Literature |
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