PanelApp (staging)
  1. Panels
  2. Hyperammonaemia
Description
This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.

With thanks to Genomics England PanelApp for the original design of this panel.
Panel Activity

10 reviewers

  • Samantha Ayres (Victorian Clinical Genetics Services)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Manny Jacobs (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Melanie Marty (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

43 Entities

43 reviewed, 42 green

List Entity Reviews Mode of inheritance Details
43 Entitiess
Green Green List (high evidence)
ACADM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
Tags
  • treatable
Green Green List (high evidence)
ACADVL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • VLCAD deficiency 201475
Tags
  • treatable
Green Green List (high evidence)
ALDH18A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150
Tags
Green Green List (high evidence)
ARG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Argininemia 207800
Tags
  • treatable
Green Green List (high evidence)
ASL
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Argininosuccinic aciduria 207900
Tags
  • treatable
Green Green List (high evidence)
ASS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Citrullinemia 215700
Tags
  • treatable
Green Green List (high evidence)
AUH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria, type I 250950
Tags
Green Green List (high evidence)
BCKDHA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Maple syrup urine disease, type Ia 248600
Tags
  • treatable
Green Green List (high evidence)
BCKDHB
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Maple syrup urine disease, type Ib 248600
Tags
  • treatable
Green Green List (high evidence)
CA5A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperammonemia due to carbonic anhydrase VA deficiency 615751
Tags
Green Green List (high evidence)
CPS1
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Carbamoylphosphate synthetase I deficiency 237300
Tags
  • treatable
Green Green List (high evidence)
CPT1A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • CPT deficiency, hepatic, type IA 255120
Tags
  • treatable
Green Green List (high evidence)
CPT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • CPT deficiency, hepatic, type II 600649
  • CPT II deficiency, lethal neonatal 608836
Tags
  • treatable
Green Green List (high evidence)
DBT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Maple syrup urine disease, type II 248600
Tags
  • treatable
Green Green List (high evidence)
ETFA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Glutaric acidemia IIA 231680
Tags
  • treatable
Green Green List (high evidence)
ETFB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Glutaric acidemia IIB 231680
Tags
  • treatable
Green Green List (high evidence)
ETFDH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Glutaric acidemia IIC 231680
Tags
  • treatable
Green Green List (high evidence)
GLUD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperinsulinism-hyperammonemia syndrome, 606762
Tags
Green Green List (high evidence)
HADHA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Trifunctional protein deficiency 609015
Tags
  • treatable
Green Green List (high evidence)
HADHB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Trifunctional protein deficiency 609015
Tags
  • treatable
Green Green List (high evidence)
HLCS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Holocarboxylase synthetase deficiency 253270
Tags
  • treatable
Green Green List (high evidence)
HMGCL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Tags
  • treatable
Green Green List (high evidence)
IVD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Isovaleric acidaemia, MIM# 243500
Tags
  • treatable
Green Green List (high evidence)
MLYCD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Malonyl-CoA decarboxylase deficiency 248360
  • malonic aciduria
Tags
  • treatable
Green Green List (high evidence)
MMAA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive 251100
Tags
  • treatable
Green Green List (high evidence)
MMAB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110
Tags
  • treatable
Green Green List (high evidence)
MUT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria, mut(0) type 251000
Tags
Green Green List (high evidence)
NAGS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • N-acetylglutamate synthase deficiency 237310
Tags
Green Green List (high evidence)
OTC
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Ornithine transcarbamylase deficiency, 311250
Tags
Green Green List (high evidence)
PC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pyruvate carboxylase deficiency 266150
Tags
Green Green List (high evidence)
PCCA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Propionicacidemia 606054
Tags
  • treatable
Green Green List (high evidence)
PCCB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Propionicacidemia 606054
Tags
  • treatable
Green Green List (high evidence)
POLG
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
Tags
Green Green List (high evidence)
PYGM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • McArdle disease 232600
Tags
Green Green List (high evidence)
SERAC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • MEGDHEL syndrome
  • MEGDEL syndrome
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
  • 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome
  • Hypoglycemia
Tags
Green Green List (high evidence)
SLC22A5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Propionicacidemia 606054
Tags
Green Green List (high evidence)
SLC25A13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Citrullinemia, adult-onset type II 603471
Tags
Green Green List (high evidence)
SLC25A15
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970
Tags
Green Green List (high evidence)
SLC25A20
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Carnitine-acylcarnitine translocase deficiency 212138
Tags
  • treatable
Green Green List (high evidence)
SLC25A36
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211
Tags
Green Green List (high evidence)
SLC7A7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Lysinuric protein intolerance 222700
Tags
Green Green List (high evidence)
TMEM70
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
Tags
Red Red List (low evidence)
OAT
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Gyrate atrophy of choroid and retina with or without ornithinemia 258870
Tags

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