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Inborn errors of metabolism

Gene: AASS

Green List (high evidence)

AASS (aminoadipate-semialdehyde synthase)
EnsemblGeneIds (GRCh38): ENSG00000008311
EnsemblGeneIds (GRCh37): ENSG00000008311
OMIM: 605113, Gene2Phenotype
AASS is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. At least 8 variants reported .
Created: 12 Jan 2017, 12:10 p.m.
Comment on phenotypes: Also associated with Saccharopinuria 268700
Created: 12 Jan 2017, 12:09 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Intellectual disability
  • Hyperlysinemia
  • Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism)
OMIM
605113
Clinvar variants
Variants in AASS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to AASS. Source London North GLH was added to AASS.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: AASS was added gene: AASS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AASS were set to 27604308 Phenotypes for gene: AASS were set to Intellectual disability; Hyperlysinemia; Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism)