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| Miscellaneous Metabolic Disorders v1.46 | GLUL | Zornitza Stark Phenotypes for gene: GLUL were changed from Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism to Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy 116, MIM# 620806 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.44 | GLUL | Zornitza Stark reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutamine deficiency, congenital MIM#610015, Developmental and epileptic encephalopathy 116, MIM# 620806; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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| Miscellaneous Metabolic Disorders v1.3 | MSMO1 | Zornitza Stark Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols; MONDO:0014793 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.318 | GCSH |
Bryony Thompson gene: GCSH was added gene: GCSH was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCSH were set to 1671321; 27604308 Phenotypes for gene: GCSH were set to Glycine encephalopathy MIM#605899; Disorders of serine, glycine or glycerate metabolism Review for gene: GCSH was set to RED Added comment: Single case reported Sources: Literature |
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| Miscellaneous Metabolic Disorders v0.308 | HAL | Bryony Thompson Marked gene: HAL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.308 | HAL | Bryony Thompson Gene: hal has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.308 | HAL | Bryony Thompson Classified gene: HAL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.308 | HAL | Bryony Thompson Added comment: Comment on list classification: Benign clinical condition | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.308 | HAL | Bryony Thompson Gene: hal has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.307 | HAL |
Bryony Thompson gene: HAL was added gene: HAL was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: HAL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HAL were set to 27604308; 15806399; 20156889 Phenotypes for gene: HAL were set to Histidinemia MIM#235800; Disorders of histidine, tryptophan or lysine metabolism Review for gene: HAL was set to GREEN Added comment: At least 4 individuals with heterozygous variants and 1 with biallelic variants with histidinemia, but no consistent clinical phenotype. Sources: Literature |
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| Miscellaneous Metabolic Disorders v0.272 | RBP4 |
Zornitza Stark gene: RBP4 was added gene: RBP4 was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: RBP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RBP4 were set to 9888420; 23189188; 25910211; 32323592; 29847795; 29178648; 27892788 Phenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10, MIM# 616428; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, MIM# 615147 Review for gene: RBP4 was set to GREEN Added comment: Retinol-binding protein (RBP) is a monomeric-binding protein that specifically transports retinol, the alcoholic form of vitamin A, in plasma from its main store site, the liver, to target cells. At least 4 families with bi-allelic variants and at least 2 families with mono allelic variants. Functional data including animal models. Sources: Expert list |
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| Miscellaneous Metabolic Disorders v0.269 | RPIA |
Zornitza Stark gene: RPIA was added gene: RPIA was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPIA were set to 14988808; 31056085; 31247379 Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM# 608611; Leukoencephalopathy Review for gene: RPIA was set to GREEN Added comment: Three unrelated families reported. Sources: Expert list |
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| Miscellaneous Metabolic Disorders v0.251 | MSMO1 |
Bryony Thompson gene: MSMO1 was added gene: MSMO1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSMO1 were set to 27604308; 21285510; 24144731; 33161406; 28673550 Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols Review for gene: MSMO1 was set to GREEN gene: MSMO1 was marked as current diagnostic Added comment: 5 cases in 4 unrelated families reported, with supporting biochemical assays demonstrating an inborn error of sterol metabolism. Sources: NHS GMS |
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| 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 |
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| Miscellaneous Metabolic Disorders v0.192 | ITPA |
Bryony Thompson gene: ITPA was added gene: ITPA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPA were set to 27604308; 12384777 Phenotypes for gene: ITPA were set to Inosine triphosphatase deficiency MIM#613850; Developmental and epileptic encephalopathy 35 MIM#616647; Disorders of purine metabolism Review for gene: ITPA was set to GREEN gene: ITPA was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Inosine triphosphatase deficiency is considered an inborn error of purine metabolism. Sources: NHS GMS |
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| Miscellaneous Metabolic Disorders v0.164 | GLS |
Bryony Thompson gene: GLS was added gene: GLS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLS were set to Developmental and epileptic encephalopathy 71 MIM#618328; Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412; disorder of amino acid metabolism |
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| Miscellaneous Metabolic Disorders v0.162 | GLDC |
Bryony Thompson gene: GLDC was added gene: GLDC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDC were set to 27604308; 2246863; 1634607 Phenotypes for gene: GLDC were set to Glycine encephalopathy MIM#605899; Disorders of serine, glycine or glycerate metabolism Review for gene: GLDC was set to GREEN gene: GLDC was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Glycine encephalopathy 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 |
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| Miscellaneous Metabolic Disorders v0.49 | AMT |
Bryony Thompson gene: AMT was added gene: AMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMT were set to 8188235; 10873393; 11592811 Phenotypes for gene: AMT were set to Glycine encephalopathy MIM#605899; disorder of glycine metabolism Review for gene: AMT was set to GREEN gene: AMT was marked as current diagnostic Added comment: Biallelic variants cause inborn error of glycine metabolism. Well-established gene-disease association (see OMIM entry). Sources: NHS GMS |
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| Miscellaneous Metabolic Disorders v0.22 | AHCY |
Bryony Thompson gene: AHCY was added gene: AHCY was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHCY were set to 28779239; 26095522; 20852937; 15024124; 27626380 Phenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 Review for gene: AHCY was set to GREEN gene: AHCY was marked as current diagnostic Added comment: S-adenosylhomocysteine hydrolase deficiency causes an inborn error in methionine metabolism. >3 cases reported with biallelic variants. Mouse model is homozygous-lethal. Sources: NHS GMS |
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| Miscellaneous Metabolic Disorders v0.20 | ADSL |
Bryony Thompson gene: ADSL was added gene: ADSL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADSL were set to 1302001; 22180458; 18524658; 27626380 Phenotypes for gene: ADSL were set to Adenylosuccinase deficiency MIM#103050 Review for gene: ADSL was set to GREEN gene: ADSL was marked as current diagnostic Added comment: Adenylosuccinase deficiency is an autosomal recessive inborn error of purine metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. Well-established gene-disease association (see OMIM). Knockout mouse model is homozygous lethal. Sources: NHS GMS |
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