Table 1.

Molecular Genetic Testing Used in Serine Deficiency Disorders

Gene 1, 2Proportion of Serine Deficiency Disorders Attributed to Pathogenic Variants in GeneProportion of Pathogenic Variants 3 Identified by Method
Sequence analysis 4Gene-targeted deletion/duplication analysis 5
PHGDH 69% 6>90% 7<10% 7
PSAT1 6% 6100% 7None reported 7, 8
PSPH 25% 6100% 7None reported 7, 8
1.

Genes are listed in alphabetic order.

2.
3.

See Molecular Genetics for information on variants detected in these genes.

4.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include missense, nonsense, and splice site variants and small intragenic deletions/insertions; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

6.

Authors, unpublished data

7.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

8.

To date, large deletions/duplications in PSAT1 or PSPH have not been reported in individuals with a serine deficiency disorder.

From: Serine Deficiency Disorders

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