Monogenic diabetes

Gene: SMPD4

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 5 Dec 2024, 7:05 p.m. | Last Modified: 5 Dec 2024, 7:05 p.m.

Panel Version: 2.60

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

• 36732302

I don't know

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

Created: 10 Nov 2023, 4:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NDD, microcephaly and diabetes

Publications

• PMID: 36732302