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Intellectual disability - microarray and sequencing v5.421 HSD17B10 Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'XL, biallelic in females' to 'XL, monoallelic in females' as female patients harbouring heterozygous variants have been described. Some carrier females shown to have mild to moderate developmental delay or intellectual disability (PMIDs: 12112118; 16148061; 22127393; 34765396)
Intellectual disability - microarray and sequencing v5.421 HSD17B10 Arina Puzriakova Mode of inheritance for gene: HSD17B10 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability - microarray and sequencing v5.420 HSD17B10 Arina Puzriakova Tag Q1_24_MOI tag was added to gene: HSD17B10.
Intellectual disability - microarray and sequencing v5.420 HSD17B10 Arina Puzriakova Publications for gene: HSD17B10 were set to
Intellectual disability - microarray and sequencing v5.419 HSD17B10 Arina Puzriakova Phenotypes for gene: HSD17B10 were changed from 17-beta-hydroxysteroid dehydrogenase X deficiency, 300438Mental retardation, X-linked syndromic 10, 300220Mental retardation, X-linked 17/31, microduplication, 300705; 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY (MHBD DEFICIENCY) to HSD10 mitochondrial disease, OMIM:300438
Intellectual disability - microarray and sequencing v2.468 HSD17B10 Louise Daugherty Source Victorian Clinical Genetics Services was added to HSD17B10.
Intellectual disability - microarray and sequencing HSD17B10 BRIDGE consortium edited their review of HSD17B10
Intellectual disability - microarray and sequencing HSD17B10 BRIDGE consortium edited their review of HSD17B10
Intellectual disability - microarray and sequencing HSD17B10 BRIDGE consortium reviewed HSD17B10