Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: SMPD4

Green List (high evidence)

SMPD4 (sphingomyelin phosphodiesterase 4)
EnsemblGeneIds (GRCh38): ENSG00000136699
EnsemblGeneIds (GRCh37): ENSG00000136699
OMIM: 610457, Gene2Phenotype
SMPD4 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

12 unrelated families with affected children, and truncating variants in this gene recently published.
Created: 18 Nov 2019, 5:21 a.m. | Last Modified: 18 Nov 2019, 5:21 a.m.
Panel Version: 0.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe neurodevelopmental delay, microcephaly, arthrogryposis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe neurodevelopmental delay, microcephaly, arthrogryposis
OMIM
610457
Clinvar variants
Variants in SMPD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smpd4 has been classified as Green List (High Evidence).

14 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMPD4 were changed from Severe neurodevelopmental delay, microcephaly, arthrogryposis to Severe neurodevelopmental delay, microcephaly, arthrogryposis

14 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMPD4 were changed from to Severe neurodevelopmental delay, microcephaly, arthrogryposis

14 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMPD4 were set to

14 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SMPD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMPD4 was added gene: SMPD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMPD4 was set to Unknown