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Intellectual disability

Gene: AMER1

Green List (high evidence)

AMER1 (APC membrane recruitment protein 1)
EnsemblGeneIds (GRCh38): ENSG00000184675
EnsemblGeneIds (GRCh37): ENSG00000184675
OMIM: 300647, Gene2Phenotype
AMER1 is in 5 panels

4 reviews

Ellen McDonagh (Genomics England Curator)

Comment on phenotypes: Gene2Phenotype both DD and IF gene with an ID-related HPO term - Osteopathia striata with cranial sclerosis includes Intellectual disability, mild.
Created: 3 Jan 2018, 12:22 p.m.
Comment on mode of inheritance: X-linked dominant mode of inheritance.
Created: 3 Jan 2018, 12:13 p.m.

Helen Brittain (Genomics England Curator)

Comment copied from December update panel - Comment when marking as ready: ID reported, in particular in male patients. Mild - moderate severity as a rule. Worth including on the ID panel although a range of syndromic presentations noted.
18 Dec 2017, 1:22 p.m.
Created: 9 Jan 2018, 9:46 a.m.
Comment on mode of inheritance: X-linked gene. ID noted in males generally, mild - moderate severity. Phenotypic overlap with mothers in other regards.
Created: 18 Dec 2017, 1:19 p.m.

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 . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 5:04 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_known; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 11:59 a.m.

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

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating of gene from Amber to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Amber in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 29 Sep 2018, 7:03 p.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel
Created: 19 Jul 2017, 4:47 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Osteopathia striata with cranial sclerosis 300373
OMIM
300647
Clinvar variants
Variants in AMER1
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: amer1 has been classified as Green List (High Evidence).

28 Sep 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to AMER1.

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.

4 Jan 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for AMER1 were set to Osteopathia striata with cranial sclerosis 300373

4 Jan 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Green was added to AMER1. Panel: Intellectual disability

18 Dec 2017, Gel status: 2

Set mode of inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for AMER1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

18 Dec 2017, Gel status: 2

Set mode of inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for AMER1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

19 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

AMER1 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

AMER1 was created by BRIDGE