Activity
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16 actions
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| Likely inborn error of metabolism v8.57 | GALT | Arina Puzriakova Phenotypes for gene: GALT were changed from Intellectual disability; Classical galactosaemia (Disorders of galactose metabolism); Galactosemia; Cataracts to Galactosemia, OMIM:230400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.112 | B4GALT1 | Arina Puzriakova Phenotypes for gene: B4GALT1 were changed from Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IId 607091 to Congenital disorder of glycosylation, type IId, OMIM:607091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.25 | GALM |
Ivone Leong gene: GALM was added gene: GALM was added to Inborn errors of metabolism. Sources: Expert Review,Literature for-review tags were added to gene: GALM. Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALM were set to 30451973; 30910422 Phenotypes for gene: GALM were set to Galactosemia IV, 618881 Review for gene: GALM was set to GREEN Added comment: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with an appropriate phenotype in OMIM but not in Gene2Phenotype. There is enough evidence for this gene to be Green. The gene has been given an Amber rating and will be promoted to Green at the next review. Review from Zornitza Stark (Australian Genomics) on the Cholestasis panel: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) Note only two individuals were reported as having transient cholestasis. Sources: Literature Zornitza Stark (Australian Genomics), 2 May 2020 Sources: Expert Review, Literature |
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| Likely inborn error of metabolism v1.47 | GALT |
Ivone Leong Source NHS GMS was added to GALT. Source London North GLH was added to GALT. |
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| Likely inborn error of metabolism v1.47 | C1GALT1C1 |
Ivone Leong Source NHS GMS was added to C1GALT1C1. Source London North GLH was added to C1GALT1C1. |
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| Likely inborn error of metabolism v1.47 | B4GALT7 |
Ivone Leong Source NHS GMS was added to B4GALT7. Source London North GLH was added to B4GALT7. |
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| Likely inborn error of metabolism v1.47 | B4GALT1 |
Ivone Leong Source NHS GMS was added to B4GALT1. Source London North GLH was added to B4GALT1. |
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| Likely inborn error of metabolism v0.4 | C1GALT1C1 |
Ellen McDonagh Mode of inheritance for gene C1GALT1C1 was changed from Other - please specifiy in evaluation comments to Other - please specify in evaluation comments Added phenotypes COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies); Tn polyagglutination syndrome, somatic 300622 for gene: C1GALT1C1 Publications for gene C1GALT1C1 were changed from 27604308 to 27604308; 19778426; 27536663 |
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| Likely inborn error of metabolism v0.4 | C1GALT1C1 |
Ellen McDonagh gene: C1GALT1C1 was added gene: C1GALT1C1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: C1GALT1C1 was set to Other - please specifiy in evaluation comments Publications for gene: C1GALT1C1 were set to 27604308 Phenotypes for gene: C1GALT1C1 were set to Tn polyagglutination syndrome, somatic |
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| Likely inborn error of metabolism v0.4 | GALT |
Ellen McDonagh gene: GALT was added gene: GALT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALT were set to 27604308 Phenotypes for gene: GALT were set to Intellectual disability; Classical galactosaemia (Disorders of galactose metabolism); Galactosemia; Cataracts |
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| Likely inborn error of metabolism v0.4 | B4GALT7 |
Ellen McDonagh Added phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070; B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) for gene: B4GALT7 Publications for gene B4GALT7 were changed from 27827381 to 27604308 |
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| Likely inborn error of metabolism v0.4 | B4GALT7 |
Ellen McDonagh gene: B4GALT7 was added gene: B4GALT7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT7 were set to 27827381 Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies 130070; B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) |
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| Likely inborn error of metabolism v0.4 | B4GALT1 |
Ellen McDonagh Added phenotypes Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IId 607091 for gene: B4GALT1 Publications for gene B4GALT1 were changed from 27604308 to 11901181; 21920538 |
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| Likely inborn error of metabolism v0.4 | B4GALT1 |
Ellen McDonagh gene: B4GALT1 was added gene: B4GALT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT1 were set to 27604308 Phenotypes for gene: B4GALT1 were set to Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IId 607091 |
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| Likely inborn error of metabolism v0.4 | B3GALT6 | Ellen McDonagh Added phenotypes Ehlers-Danlos syndrome, progeroid type, 2 for gene: B3GALT6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | B3GALT6 |
Ellen McDonagh gene: B3GALT6 was added gene: B3GALT6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALT6 were set to 23664117; 23664118 Phenotypes for gene: B3GALT6 were set to Ehlers-Danlos syndrome, progeroid type, 2 |
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