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Fetal anomalies

Gene: SLC25A19

Red List (low evidence)
SLC25A19 (solute carrier family 25 member 19)
EnsemblGeneIds (GRCh38): ENSG00000125454
EnsemblGeneIds (GRCh37): ENSG00000125454
OMIM: 606521, Gene2Phenotype
SLC25A19 is in 10 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Amish-type microcephaly is a severe autosomal recessive metabolic disorder characterized by severe microcephaly apparent at birth, profoundly delayed psychomotor development, brain malformations, and episodic encephalopathy associated with lactic acidosis and alpha-ketoglutaric aciduria. Observed only in Old Order Amish families. Rosenberg et al. (2002) reported 23 affected nuclear families connected to a single ancestral couple with a homozygous nucleotide change in SLC25A19 gene which segregated with the disease in affected individuals. Functional analysis showed that the mutant DNC protein lacked the normal transport activity, implying that failed deoxynucleotide transport across the inner mitochondrial membrane causes Amish-type microcephaly. Technically only 1 large related family.

Thiamine metabolism dysfunction syndrome-4 is an autosomal recessive metabolic disorder characterized by childhood onset of episodic encephalopathy, often associated with a febrile illness, and causing transient neurologic dysfunction. Not presenting antenatally/perinatally. Not suitable for fetal anomalies panel.
Created: 14 Jan 2022, 6:11 a.m. | Last Modified: 14 Jan 2022, 6:11 a.m.
Panel Version: 0.2224

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, Amish type, OMIM # 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), OMIM #613710

Publications

Created: 14 Jan 2022, 6:11 a.m.
Last Modified: 14 Jan 2022, 6:11 a.m.
Panel version: 0.2224

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Bi-alllelic variants in this gene have been associated with a spectrum of phenotypes, ranging from a severe neonatal disorder in the Amish, with ID as part of the phenotype (founder effect) through to a neuropathy/disorder of episodic encephalopathy.
Created: 10 Dec 2019, 10:40 p.m. | Last Modified: 18 Feb 2020, 7:53 a.m.
Panel Version: 0.2202

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, Amish type, MIM#607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710

Publications

Created: 10 Dec 2019, 10:40 p.m.
Last Modified: 18 Feb 2020, 7:53 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2202

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Microcephaly, Amish type, OMIM:607196
  • Amish lethal microcephaly, MONDO:0011790
OMIM
606521
Clinvar variants
Variants in SLC25A19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc25a19 has been classified as Red List (Low Evidence).

20 Jan 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC25A19 were set to

14 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: slc25a19 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC25A19 was added gene: SLC25A19 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A19 were set to Microcephaly, Amish type, OMIM:607196; Amish lethal microcephaly, MONDO:0011790