Description
Hyperammonaemia eligibility statement:

Hyperammonaemia inclusion criteria (29459)
- Evidence of inborn error of metabolism as demonstrated by findings in at least 2 of the following areas:
  - Clinical presentation
  - Biochemical
  - Haematological
  - Radiological
- Biochemical testing and genetic testing completed for relevant known inborn errors of metabolism

Hyperammonaemia exclusion criteria (29459)

Prior genetic testing guidance (29459)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Hyperammonaemia prior genetic testing genes (29459)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - Genetic testing completed for relevant known inborn errors of metabolism

Closing statement (29459)
These requirements will be kept under continual review during the main programme and may be subject to change.

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Sian Ellard (University of Exeter Medical School)

    Group: other
    Workplace: other

  • Peter Clayton (UCL Institute of Child Health)

    Group: NHS Genomic Medicine Centre
    Workplace: Research lab

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

106 Entities

106 reviewed, 42 green

List Entity Reviews Mode of inheritance Details
106 Entitiess
Green Green List (high evidence)
ACADM
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
Tags
Green Green List (high evidence)
ACADVL
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • VLCAD deficiency 201475
Tags
Green Green List (high evidence)
ALDH18A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150
Tags
Green Green List (high evidence)
ARG1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Argininemia 207800
Tags
Green Green List (high evidence)
ASL
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Argininosuccinic aciduria 207900
Tags
Green Green List (high evidence)
ASS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Citrullinemia 215700
Tags
Green Green List (high evidence)
AUH
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type I 250950
Tags
Green Green List (high evidence)
BCKDHA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Maple syrup urine disease, type Ia 248600
Tags
Green Green List (high evidence)
BCKDHB
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Maple syrup urine disease, type Ib 248600
Tags
Green Green List (high evidence)
CA5A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperammonemia due to carbonic anhydrase VA deficiency 615751
Tags
Green Green List (high evidence)
CPS1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Carbamoylphosphate synthetase I deficiency 237300
Tags
Green Green List (high evidence)
CPT1A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • CPT deficiency, hepatic, type IA 255120
Tags
Green Green List (high evidence)
CPT2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • CPT deficiency, hepatic, type II 600649
  • CPT II deficiency, lethal neonatal 608836
Tags
Green Green List (high evidence)
DBT
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Maple syrup urine disease, type II 248600
Tags
Green Green List (high evidence)
ETFA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIA 231680
Tags
Green Green List (high evidence)
ETFB
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIB 231680
Tags
Green Green List (high evidence)
ETFDH
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIC 231680
Tags
Green Green List (high evidence)
GLUD1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperinsulinism-hyperammonemia syndrome, 606762
Tags
Green Green List (high evidence)
HADHA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Trifunctional protein deficiency 609015
Tags
Green Green List (high evidence)
HADHB
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Trifunctional protein deficiency 609015
Tags
Green Green List (high evidence)
HLCS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Holocarboxylase synthetase deficiency 253270
Tags
Green Green List (high evidence)
HMGCL
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Tags
Green Green List (high evidence)
IVD
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Isovaleric acidemia 243500
Tags
Green Green List (high evidence)
MLYCD
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • malonic aciduria
  • Malonyl-CoA decarboxylase deficiency 248360
Tags
Green Green List (high evidence)
MMAA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive 251100
Tags
Green Green List (high evidence)
MMAB
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110
Tags
Green Green List (high evidence)
MUT
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Methylmalonic aciduria, mut(0) type 251000
Tags
  • new-gene-name
Green Green List (high evidence)
NAGS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • N-acetylglutamate synthase deficiency 237310
Tags
Green Green List (high evidence)
OAT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Gyrate atrophy of choroid and retina with or without ornithinemia 258870
Tags
Green Green List (high evidence)
OTC
3 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ornithine transcarbamylase deficiency, 311250
Tags
  • gene-therapy-trial
Green Green List (high evidence)
PC
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Pyruvate carboxylase deficiency 266150
Tags
Green Green List (high evidence)
PCCA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Propionicacidemia 606054
Tags
Green Green List (high evidence)
PCCB
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Propionicacidemia 606054
Tags
Green Green List (high evidence)
POLG
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
Tags
Green Green List (high evidence)
PYGM
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • McArdle disease 232600
Tags
Green Green List (high evidence)
SERAC1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
  • MEGDEL syndrome
  • 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome
  • MEGDHEL syndrome
  • Hypoglycemia
Tags
Green Green List (high evidence)
SLC22A5
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Propionicacidemia 606054
Tags
Green Green List (high evidence)
SLC25A13
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Citrullinemia, adult-onset type II 603471
Tags
Green Green List (high evidence)
SLC25A15
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970
Tags
Green Green List (high evidence)
SLC25A20
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Carnitine-acylcarnitine translocase deficiency 212138
Tags
Green Green List (high evidence)
SLC7A7
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Lysinuric protein intolerance 222700
Tags
Green Green List (high evidence)
TMEM70
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
Tags
Red Red List (low evidence)
ACAD9
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
  • Reye-like presentation with hyperammonaemia
Tags
Red Red List (low evidence)
ACADL
3 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Tags
Red Red List (low evidence)
ACADS
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Acyl-CoA dehydrogenase, short-chain, deficiency of 201470
  • SCAD deficiency
Tags
Red Red List (low evidence)
ACSF3
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
AGA
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
AGL
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
ARSA
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Metachromatic leukodystrophy 250100
Tags
Red Red List (low evidence)
ARSB
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
Tags
Red Red List (low evidence)
ATPAF2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 604273
Tags
Red Red List (low evidence)
CD320
3 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CLN3
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CLN5
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CLN6
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CLN8
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CYP27A1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
DLD
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
ENO3
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
G6PC
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GAA
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GALC
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GALNS
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GBA
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GBE1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GLA
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GLB1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GM2A
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GNPTAB
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GYS1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
GYS2
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
HGSNAT
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
HMGCS2
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • HMG-CoA synthase-2 deficiency 605911
Tags
Red Red List (low evidence)
HYAL1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
IDS
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
IDUA
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
LIPA
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
LMBRD1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
LPIN1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
MAN2B1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
MANBA
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
MCCC1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
MCCC2
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
MCEE
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
MCOLN1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
MFSD8
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
MMACHC
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type 277400
Tags
Red Red List (low evidence)
MTR
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
MTRR
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
NAGA
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
NAGLU
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
NEU1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
NPC1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
NPC2
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
OPA3
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
PFKM
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
PPT1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
PYGL
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
SGSH
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
SLC17A5
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
SLC37A4
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
SMPD1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
SUCLG1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
SUMF1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
TAZ
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
TPP1
2 reviews
1 red
Not set
Sources
  • Emory Genetics Laboratory
Tags

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