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Intellectual disability - microarray and sequencing v4.53 HSPD1 Arina Puzriakova Tag Q2_22_MOI was removed from gene: HSPD1.
Intellectual disability - microarray and sequencing v4.53 HSPD1 Arina Puzriakova commented on gene: HSPD1: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v4.52 HSPD1 Arina Puzriakova Source NHS GMS was added to HSPD1.
Mode of inheritance for gene HSPD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.1551 HSPD1 Arina Puzriakova Tag Q2_22_MOI tag was added to gene: HSPD1.
Intellectual disability - microarray and sequencing v3.1551 HSPD1 Arina Puzriakova Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant, 605280Leukodystrophy, hypomyelinating, 4, 612233; SPASTIC PARAPLEGIA AUTOSOMAL DOMINANT TYPE 13 to Leukodystrophy, hypomyelinating, 4, OMIM:612233
Intellectual disability - microarray and sequencing v3.1550 HSPD1 Arina Puzriakova Publications for gene: HSPD1 were set to
Intellectual disability - microarray and sequencing v3.1549 HSPD1 Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update. Biallelic variants cause a paediatric-onset leukodystrophy (MIM# 612233) which can feature severe DD/ID in some cases (PMID: 18571143, 27405012), whereas monoallelic variants are associated with a pure adult-onset HSP (SPG13, MIM# 605280) which is not pertinent to this panel.
Intellectual disability - microarray and sequencing v3.1549 HSPD1 Arina Puzriakova Mode of inheritance for gene: HSPD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v2.468 HSPD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to HSPD1.
Intellectual disability - microarray and sequencing HSPD1 BRIDGE consortium edited their review of HSPD1
Intellectual disability - microarray and sequencing HSPD1 BRIDGE consortium edited their review of HSPD1
Intellectual disability - microarray and sequencing HSPD1 BRIDGE consortium reviewed HSPD1