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Intellectual disability

Gene: ACE2

Red List (low evidence)

ACE2 (angiotensin I converting enzyme 2)
EnsemblGeneIds (GRCh38): ENSG00000130234
EnsemblGeneIds (GRCh37): ENSG00000130234
OMIM: 300335, Gene2Phenotype
ACE2 is in 2 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

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

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Candidate gene variant found in one ID proband
Created: 31 Oct 2017, 9:57 a.m.

Mode of inheritance
Unknown

Phenotypes
Intellectual disability

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Intellectual disability
OMIM
300335
Clinvar variants
Variants in ACE2
Penetrance
Complete
Publications
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.

29 Nov 2017, Gel status: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ACE2 was set to Unknown Publications for gene ACE2 was set to ['26350204']

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: 0

Created

Ellen McDonagh (Genomics England Curator)

ACE2 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ACE2 was added to Intellectual disabilitypanel. Sources: Expert Review Red