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Microcephaly

Gene: SPOUT1

Green List (high evidence)

SPOUT1 (SPOUT domain containing methyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000198917
EnsemblGeneIds (GRCh37): ENSG00000198917
OMIM: 617614, Gene2Phenotype
SPOUT1 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Biallelic SPOUT1 variants were identified in 28 individuals with a complex neurodevelopmental disorder from 21 unrelated families. Common phenotypes include microcephaly (18/21), seizures (20/28), intellectual disability (14/14), and varying degrees of developmental delays (28/28). Also, supporting zebrafish model. The suggested name of the disorder is SpADMiSS (SPOUT1 Associated Development delay Microcephaly Seizures Short stature).
Sources: Literature
Created: 5 Mar 2025, 2:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
complex neurodevelopmental disorder MONDO:0100038, SPOUT1-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038, SPOUT1-related
OMIM
617614
Clinvar variants
Variants in SPOUT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: spout1 has been classified as Green List (High Evidence).

5 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: spout1 has been classified as Green List (High Evidence).

5 Mar 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SPOUT1 was added gene: SPOUT1 was added to Microcephaly. Sources: Literature 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 complex neurodevelopmental disorder MONDO:0100038, SPOUT1-related Review for gene: SPOUT1 was set to GREEN