Holoprosencephaly

Gene: SMAD2

Red List (low evidence)

SMAD2 (SMAD family member 2)
EnsemblGeneIds (GRCh38): ENSG00000175387
EnsemblGeneIds (GRCh37): ENSG00000175387
OMIM: 601366, Gene2Phenotype
SMAD2 is in 8 panels

3 reviews

Louise Daugherty (Genomics England Curator)

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 2:16 p.m. | Last Modified: 29 Jul 2019, 2:16 p.m.
Panel Version: 1.20

Helen Brittain (Genomics England Curator)

Comment when marking as ready: PMID 18538293 assessed for variants in this gene, in view of it being part of a relevant pathway. No mutations were identified. No cases to link mutation to HPE in this gene at present, therefore considered red.
Created: 30 May 2017, 4:04 p.m.

Lara Menzies (Great Ormond Street Hospital )

Red List (low evidence)

Mode of inheritance
Unknown

Phenotypes
Holoprosencephaly

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Unknown
OMIM
601366
Clinvar variants
Variants in SMAD2
Penetrance
Complete
Publications
  • (Roessler (2008) Am J Hum Genet 83,18) 18538293
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SMAD2.

31 May 2017, Gel status: 1

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted to version one after review within the genomics England curation team.

30 May 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

30 May 2017, Gel status: 1

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for SMAD2 were set to Unknown

30 May 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for SMAD2 were set to (Roessler (2008) Am J Hum Genet 83,18) 18538293

9 Dec 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

SMAD2 was created by oniblock

9 Dec 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

SMAD2 was added to Holoprosencephalypanel. Sources: Radboud University Medical Center, Nijmegen