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Arthrogryposis

Gene: SMPD4

Green List (high evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases support gene-disease association.
Created: 7 Oct 2019, 10:19 a.m. | Last Modified: 7 Oct 2019, 10:30 a.m.
Panel Version: 2.45
Comment on publications: Magini P et al. (October 2019) Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Created: 7 Oct 2019, 10:14 a.m. | Last Modified: 7 Oct 2019, 10:30 a.m.
Panel Version: 2.45

Arianna Tucci (Genomics England Curator)

I don't know

Work presented at ESHG 2018 by Pamela Magini: three unrelated families with ID, cerebellar hypoplasia, arthrogryposis. Still unpublished.
Created: 5 Jul 2018, 10:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis
OMIM
610457
Clinvar variants
Variants in SMPD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

7 Oct 2019, Gel status: 2

Removed Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist was removed from gene: SMPD4.

7 Oct 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SMPD4 were set to

17 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: smpd4 has been classified as Amber List (Moderate Evidence).

5 Jul 2018, Gel status: 1

Added New Source

Arianna Tucci (Genomics England Curator)

SMPD4 was added to Arthrogryposis panel. Sources: Research

5 Jul 2018, Gel status: 1

Created

Arianna Tucci (Genomics England Curator)

SMPD4 was created by Arianna Tucci