Monogenic short stature
Gene: SPOUT1EnsemblGeneIds (GRCh38): ENSG00000198917
EnsemblGeneIds (GRCh37): ENSG00000198917
OMIM: 617614, Gene2Phenotype
SPOUT1 is in 5 panels
2 reviews
Ida Ertmanska (Genomics England Curator)
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: 11 Dec 2025, 1:25 p.m. | Last Modified: 11 Dec 2025, 1:25 p.m.
Panel Version: 1.27
Sarah Leigh (Genomics England Curator)
Comment on publications: PMID: 39962046 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.Created: 17 Mar 2025, 1:47 p.m. | Last Modified: 17 Mar 2025, 1:47 p.m.
Panel Version: 1.4
PMID: 39962046 reports the association of biallelic SPOUT1 variants with SPOUT1 Associated Development delay Microcephaly Seizures Short stature. In this study, a total of 18 SPOUT1 variants were found in 28 individuals from 21 unrelated families. Intellectual disability was evident in 10/10 families where it could be ascertained, seizures were reported in 16/21 of the families and short stature was seen in 13/15 families where it could be measured.
SPOUT1 variant zebra fish models showed reduction in larval head size with concomitant apoptosis and the human SPOUT1 missense variants were pathogenic in complementation assays in zebrafish (PMID: 39962046).
Sources: LiteratureCreated: 17 Mar 2025, 1:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPOUT1 Associated Development delay Microcephaly Seizures Short stature
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
- OMIM
- 617614
- Clinvar variants
- Variants in SPOUT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Ida Ertmanska (Genomics England Curator)Tag Q1_25_ promote_green was removed from gene: SPOUT1.
Added New Source, Added New Source, Status Update
Ida Ertmanska (Genomics England Curator)Source Expert Review Green was added to SPOUT1. Source NHS GMS was added to SPOUT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SPOUT1 were changed from SPOUT1 Associated Development delay Microcephaly Seizures Short stature to Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: spout1 has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SPOUT1 were set to 39962046
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: SPOUT1 was added gene: SPOUT1 was added to Monogenic short stature. Sources: Literature Q1_25_ promote_green tags were added to gene: SPOUT1. Mode of inheritance for gene: SPOUT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPOUT1 were set to 39962046 Phenotypes for gene: SPOUT1 were set to SPOUT1 Associated Development delay Microcephaly Seizures Short stature Review for gene: SPOUT1 was set to GREEN