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  2. Fetal anomalies
  3. AASS
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Fetal anomalies

Gene: AASS

Amber List (moderate evidence)
AASS (aminoadipate-semialdehyde synthase)
EnsemblGeneIds (GRCh38): ENSG00000008311
EnsemblGeneIds (GRCh37): ENSG00000008311
OMIM: 605113, Gene2Phenotype
AASS is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for HYPERLYSINEMIA
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Hyperlysinemia, OMIM:238700
  • Hyperlysinemia (disease), MONDO:0009388
OMIM
605113
Clinvar variants
Variants in AASS
Penetrance
None
Panels with this gene

History Filter Activity

18 Dec 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AASS were changed from HYPERLYSINEMIAHyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388 to Hyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388

18 Dec 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AASS were changed from HYPERLYSINEMIA to HYPERLYSINEMIAHyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: AASS was added gene: AASS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AASS were set to HYPERLYSINEMIA