Monogenic diabetes
Gene: SMPD4
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.Created: 1 Mar 2024, 2:37 p.m. | Last Modified: 1 Mar 2024, 2:37 p.m.
Panel Version: 2.57
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622; type 1 diabetes mellitus, MONDO:0005147
Publications
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: LiteratureCreated: 10 Nov 2023, 4:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NDD, microcephaly and diabetes
Publications
Gene: smpd4 has been classified as Amber List (Moderate Evidence).
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
Publications for gene: SMPD4 were set to PMID: 36732302
Tag Q1_24_promote_green tag was added to gene: SMPD4.
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