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Miscellaneous Metabolic Disorders v1.24 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.23 TAT Zornitza Stark Tag treatable tag was added to gene: TAT.
Miscellaneous Metabolic Disorders v1.17 SLC16A1 Zornitza Stark gene: SLC16A1 was added
gene: SLC16A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: SLC16A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC16A1 were set to 25390740
Phenotypes for gene: SLC16A1 were set to Monocarboxylate transporter 1 deficiency, MIM# 616095
Review for gene: SLC16A1 was set to GREEN
Added comment: 3 individuals with bi-allelic and 5 with mono-allelic variants reported. Individuals with bi-allelic variants had more severe presentation, including mild ID but unclear if this is primary or secondary to episodes of ketoacidosis.

All patients presented with bouts of ketoacidosis provoked by fasting or infections in the first years of life. Ketoacidotic episodes were preceded by poor feeding and vomiting and were associated with dehydration, which was a consequence of osmotic diuresis and vomiting. In all patients, treatment with intravenous glucose or dextrose, combined with bicarbonate, led to rapid clearance of metabolic acidosis. Early initiation of treatment appeared to prevent ketoacidosis, and ensuring adequate caloric intake reduced the number of episodes. The frequency of ketoacidotic episodes appeared to decrease over time, and none of the patients had documented ketoacidosis after 7 years of age, although some patients had marked ketonuria associated with mild infections.
Sources: Expert Review
Miscellaneous Metabolic Disorders v1.11 NAT8L Zornitza Stark Phenotypes for gene: NAT8L were changed from ?N-acetylaspartate deficiency - MIM#614063 to N-acetylaspartate deficiency - MIM#614063
Miscellaneous Metabolic Disorders v1.9 NAT8L Zornitza Stark reviewed gene: NAT8L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: None
Miscellaneous Metabolic Disorders v1.9 NAT8L Krithika Murali gene: NAT8L was added
gene: NAT8L was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAT8L were set to 11310630; 19807691; 32275776
Phenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency - MIM#614063
Review for gene: NAT8L was set to AMBER
Added comment: Absence of brain N-acetylaspartate, has been described in only one patient, with truncal ataxia, marked developmental delay, seizures and secondary microcephaly (first described by - PMID: 11310630 Martin et al 2001). PMID: 19807691 - Wiame et al 2009 identified in this patient a homozygous 19 bp NAT8L gene deletion, resulting in a change in reading frame and the absence of production of a functional protein. The affected individual is adopted and testing of the biological parents was not possible. The authors provide supportive functional studies.
Sources: Literature
Miscellaneous Metabolic Disorders v0.325 GGT1 Bryony Thompson gene: GGT1 was added
gene: GGT1 was added to Miscellaneous Metabolic Disorders. Sources: Literature
SV/CNV tags were added to gene: GGT1.
Mode of inheritance for gene: GGT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GGT1 were set to 31520399; 27604308; 23615310; 29483667
Phenotypes for gene: GGT1 were set to Glutathioninuria MIM#231950; Disorders of the gamma-glutamyl cycle
Review for gene: GGT1 was set to AMBER
Added comment: 2 unrelated families segregating heterozygous variants with GGTemia, with no clinical phentoype. 2 sibs with a 16.9 kb homozygous deletion with glutathionuria and mild psychomotor developmental delay and mild neurological symptoms.
Sources: Literature
Miscellaneous Metabolic Disorders v0.322 SLC36A2 Bryony Thompson changed review comment from: 5 families with iminoglycinuria or hyperglycinuria with classic semidominant inheritance pattern in which 2 nonfunctional alleles conferred the IG phenotype whereas 1 nonfunctional allele was sufficient to confer the HG phenotype. Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19.
Sources: Literature; to: 5 families with iminoglycinuria or hyperglycinuria with classic semidominant inheritance pattern in which 2 nonfunctional alleles conferred the IG phenotype whereas 1 nonfunctional allele was sufficient to confer the HG phenotype. Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19. Additional homozygote reported in 2015.
Sources: Literature
Miscellaneous Metabolic Disorders v0.321 SLC36A2 Bryony Thompson gene: SLC36A2 was added
gene: SLC36A2 was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC36A2 were set to 19033659; 26141664; 27604308
Phenotypes for gene: SLC36A2 were set to Hyperglycinuria MIM#138500; Iminoglycinuria, digenic MIM#242600; Disorders of amino acid transport
Review for gene: SLC36A2 was set to GREEN
Added comment: 5 families with iminoglycinuria or hyperglycinuria with classic semidominant inheritance pattern in which 2 nonfunctional alleles conferred the IG phenotype whereas 1 nonfunctional allele was sufficient to confer the HG phenotype. Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19.
Sources: Literature
Miscellaneous Metabolic Disorders v0.317 SARDH Bryony Thompson Added comment: Comment on list classification: Benign metabolic state producing no disease
Miscellaneous Metabolic Disorders v0.286 OPLAH Bryony Thompson gene: OPLAH was added
gene: OPLAH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: OPLAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OPLAH were set to 27604308; 27477828
Phenotypes for gene: OPLAH were set to 5-oxoprolinase deficiency MIM#260005; Disorders of the gamma-glutamyl cycle
Review for gene: OPLAH was set to GREEN
Added comment: Characterized as an inborn error of glutathione metabolism, but there is debate as to whether OPLAH deficiency represents a disorder or simply a biochemical condition with no adverse clinical effects because patients lack a consistent clinical picture apart from 5-oxoprolinuria. Clinical features were highly variable and in several sib pairs, did not segregate with 5-oxoprolinuria in 14 families from various backgrounds
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.276 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to Arts syndrome 301835; Charcot-Marie-Tooth disease, X-linked recessive, 5 311070; Deafness, X-linked 1 304500; Gout, PRPS-related 300661; Phosphoribosylpyrophosphate synthetase superactivity 300661
Review for gene: PRPS1 was set to GREEN
Added comment: Phosphoribosylpyrophosphate synthetase catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for the de novo and salvage pathways of purine and pyrimidine biosynthesis.

Both increased and decreased enzyme activity has been linked to disease.
Sources: Expert Review
Miscellaneous Metabolic Disorders v0.265 NSDHL Bryony Thompson gene: NSDHL was added
gene: NSDHL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NSDHL were set to 27604308; 10710235
Phenotypes for gene: NSDHL were set to CHILD syndrome MIM#308050; Disorders of sterol biosynthesis
Review for gene: NSDHL was set to GREEN
gene: NSDHL was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). CHILD syndrome is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.255 MTR Bryony Thompson gene: MTR was added
gene: MTR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTR were set to 8968735; 27604308
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type MIM#250940; Organic aciduria
Review for gene: MTR was set to GREEN
gene: MTR was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Methionine synthase deficiency-cblG is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sulphur amino acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.224 SLC46A1 Zornitza Stark gene: SLC46A1 was added
gene: SLC46A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC46A1 were set to 17446347; 17129779; 21333572
Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, MIM# 229050
Review for gene: SLC46A1 was set to GREEN
Added comment: Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system.

More than 5 unrelated families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.222 SLC5A1 Zornitza Stark gene: SLC5A1 was added
gene: SLC5A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A1 were set to 27604308; 2008213; 8195156; 20486940
Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption MIM# 606824; (Disorders of glucose transport)
Review for gene: SLC5A1 was set to GREEN
Added comment: At least 3 unrelated families reported, presentation is with osmotic diarrhoea.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.217 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 29669219; 23104561; 31754459; 27904971; 31392107
Phenotypes for gene: SLC5A6 were set to SLC5A6-related Neurodevelopmental Disorder
Review for gene: SLC5A6 was set to GREEN
Added comment: At least 5 variants published in three unrelated famililies (4 cases total) with SLC5A6-related Neurodevelopmental Disorder, together with supportive functional studies (PMID 29669219; 23104561). One of the cases had mixed semiology seizures including focal dyscognitive, absence, tonic spasms and generalised convulsive seizures with electrographic features of encephalopathy with generalised and independent multifocal spike-wave discharges (PMID 31754459), another case had brain, immune, bone and intestinal dysfunction (PMID 27904971) and the third had metabolic dysfunction mimicking biotinidase deficiency (PMID 31392107). This condition could be treated with biotin supplementation and introduction of pantothenic acid supplementation (PMID 31392107).
Sources: Expert list
Miscellaneous Metabolic Disorders v0.215 SLC6A19 Zornitza Stark gene: SLC6A19 was added
gene: SLC6A19 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A19 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A19 were set to Hartnup disorder, MIM# 234500; Hyperglycinuria, MIM# 138500; Iminoglycinuria, MIM# 242600
Review for gene: SLC6A19 was set to GREEN
Added comment: Bi-allelic variants associated with Hartnup disorder, which is characterised by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra, cerebellar ataxia, and psychosis.

Hyperglycinuria/iminoglycinuria: The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria is a benign inborn error of amino acid transport, and is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG)
Sources: Expert list
Miscellaneous Metabolic Disorders v0.182 HCFC1 Bryony Thompson gene: HCFC1 was added
gene: HCFC1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HCFC1 were set to 24011988
Phenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) MIM#309541; disorder of cobalamin metabolism
Review for gene: HCFC1 was set to GREEN
gene: HCFC1 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Methylmalonic acidemia and homocysteinemia is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of cobalamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.178 GSS Bryony Thompson gene: GSS was added
gene: GSS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSS were set to 8896573
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency MIM#266130; Hemolytic anemia due to glutathione synthetase deficiency MIM#231900; Disorders of the gamma-glutamyl cycle
Review for gene: GSS was set to GREEN
gene: GSS was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Glutathione synthetase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.174 GNMT Bryony Thompson gene: GNMT was added
gene: GNMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GNMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNMT were set to 11810299; 14739680; 17937387; 27207470
Phenotypes for gene: GNMT were set to Glycine N-methyltransferase deficiency MIM#606664; Disorders of the metabolism of sulphur amino acids
Review for gene: GNMT was set to GREEN
Added comment: Only 5 cases in 4 families reported thus far, and a supporting null mouse model. The clinical presentation of the reported cases (mild hepatomegaly and chronic elevation of the transaminase levels in the blood without liver disease) suggests a benign disorder, however hypermethioninemia is a reported risk factor for various neurological complications regardless of the cause.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.160 GK Bryony Thompson gene: GK was added
gene: GK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GK were set to 27604308; 8499912; 8651297
Phenotypes for gene: GK were set to Glycerol kinase deficiency MIM#307030; Disorders of glycerol metabolism
Review for gene: GK was set to GREEN
gene: GK was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Isolated glycerol kinase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of glycerol metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.152 GAMT Bryony Thompson gene: GAMT was added
gene: GAMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAMT were set to 27604308; 8651275
Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2 MIM#612736; Disorders of creatinine metabolism
Review for gene: GAMT was set to GREEN
gene: GAMT was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Guanidinoacetate methyltransferase (GAMT) deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of creatine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.150 GALT Bryony Thompson gene: GALT was added
gene: GALT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GALT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GALT were set to 27604308; 2011574
Phenotypes for gene: GALT were set to Galactosemia MIM#230400; Disorders of galactose metabolism
Review for gene: GALT was set to GREEN
gene: GALT was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). GALT deficiency is considered an inborn error of galactose metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.115 CUBN Bryony Thompson gene: CUBN was added
gene: CUBN was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CUBN were set to 10080186; 31613795
Phenotypes for gene: CUBN were set to Proteinuria, chronic benign MIM#618884; Imerslund-Grasbeck syndrome 1 MIM#261100; Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism)
Review for gene: CUBN was set to GREEN
gene: CUBN was marked as current diagnostic
Added comment: Well-established gene-disease associations (see OMIM entry). CUBN deficiency causes an inborn error of cobalamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.111 CTH Bryony Thompson gene: CTH was added
gene: CTH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: CTH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTH were set to 12574942; 20584029; 24761004; 15151507
Phenotypes for gene: CTH were set to Cystathioninuria MIM#219500
Review for gene: CTH was set to RED
Added comment: >3 cases reported with cystathioninuria with no striking pathologic features. Due to inconsistency and wide variety of disease associations, it is considered to be a benign biochemical anomaly. Null mouse model demonstrates homocysteinemia/cystathioninemia but develop with no apparent abnormality.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.103 STS Zornitza Stark gene: STS was added
gene: STS was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: STS were set to Ichthyosis, X-linked 308100; Sterol metabolism disorder
Review for gene: STS was set to GREEN
Added comment: Well established gene-disease association. CNVs common.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.90 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 7842019; 8981948
Phenotypes for gene: ATP7A were set to Menkes disease MIM#309400; Occipital horn syndrome MIM#304150; disorder of copper matabolism
Review for gene: ATP7A was set to GREEN
gene: ATP7A was marked as current diagnostic
Added comment: Well-established gene-disease association. Menkes disease and Occipital horn syndrome are caused by an inborn error of copper metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.83 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC6A8 were set to 27604308; 16738945
Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, MIM# 300352
Review for gene: SLC6A8 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.74 TAT Zornitza Stark Marked gene: TAT as ready
Miscellaneous Metabolic Disorders v0.74 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.74 TAT Zornitza Stark Classified gene: TAT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.74 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.73 TAT Zornitza Stark gene: TAT was added
gene: TAT was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAT were set to Tyrosinemia, type II, MIM# 276600
Review for gene: TAT was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.59 WDR45 Zornitza Stark gene: WDR45 was added
gene: WDR45 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: WDR45 were set to 23176820
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5, MIM# 300894
Review for gene: WDR45 was set to GREEN
Added comment: The WDR45 gene has an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation.

More than 20 unrelated individuals reported. XLD.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.14 ACSF3 Bryony Thompson gene: ACSF3 was added
gene: ACSF3 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACSF3 were set to 21841779; 30740739
Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria MIM#614265
Review for gene: ACSF3 was set to AMBER
Added comment: ACSF3 deficiency causes combined malonic and methylmalonic aciduria, however the clinical significance of this deficiency appears uncertain. No specific or consistent pattern of clinical manifestations was identified in an unselected cohort of 25 cases identified through NBS in Quebec.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.6 Bryony Thompson Panel status changed from internal to public