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Intellectual disability

Gene: SMAD4

Green List (high evidence)

SMAD4 (SMAD family member 4)
EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 26 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: added publications to support phenotype
Created: 19 Dec 2017, 4:55 p.m.

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 4:54 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Phenotypes
MYHRE SYNDROME

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Caputo (PMID:22243968, 2012) reported 8 unrelated patients with Myhre syndrome (MIM:139210), 7 of which had delayed development and ID. PMID:22585601 (2012) determined that 2 earlier-reported (PMID:11977156, 2002) patients with phenotypes including mildly delayed development and ID had Myhre syndrome. Therefore although ID phenotype is variable (intellect is normal in many reported Myhre patients) there are sufficient cases (>3) to support ID causation and Green rating.
Created: 31 Oct 2017, 9:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myhre syndrome, 139210 (includes intellectual disability)

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_UKGTN_v12 . Main mutation mechanism : Loss of function; Activating
Created: 27 Jul 2017, 8:29 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

19 Dec 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SMAD4 were set to 22243968; 22585601; 25529582; 24896178

19 Dec 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SMAD4 were set to Myhre syndrome, 139210; Includes intellectual disability

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to SMAD4. Panel: Intellectual disability Model of inheritance for gene SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene SMAD4 was set to ['22243968', ' 22585601']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SMAD4 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SMAD4 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen