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Intellectual disability

Gene: A2ML1

Red List (low evidence)

A2ML1 (alpha-2-macroglobulin like 1)
EnsemblGeneIds (GRCh38): ENSG00000166535
EnsemblGeneIds (GRCh37): ENSG00000166535
OMIM: 610627, Gene2Phenotype
A2ML1 is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Noonan syndrome-like phenotypes includes phenotypes relevant to this panel: Developmental, Motor development delay/delayed milestones and learning disabilities. There is currently not enough evidence to make this gene amber or red status
Created: 1 Feb 2018, 11:35 a.m.
Comment on list classification: New red gene recommended by expert reviewer. Changed from Grey to Red.
Created: 1 Feb 2018, 11:32 a.m.
Comment on list classification: changed from Grey to Red.
Created: 1 Feb 2018, 11:32 a.m.

Tord Jonson (Dep. of Clinical Genetics & Pathology, Lund, Sweden)

Red List (low evidence)

Noonan syndrome-like phenotype, Candidate RASopathy gene.
Created: 14 Dec 2017, 9:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
OMIM
610627
Clinvar variants
Variants in A2ML1
Penetrance
Incomplete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

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.

1 Feb 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for A2ML1 were set to 24939586; 25862627; 27942422

1 Feb 2018, Gel status: 1

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

1 Feb 2018, Gel status: 1

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

14 Dec 2017, Gel status: 0

Added New Source

Tord Jonson (Dep. of Clinical Genetics & Pathology, Lund, Sweden)

A2ML1 was added to Intellectual disability panel. Sources: Literature

14 Dec 2017, Gel status: 0

Created

Tord Jonson (Dep. of Clinical Genetics & Pathology, Lund, Sweden)

A2ML1 was created by Tord Jonson