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Intellectual disability - microarray and sequencing v4.53 PEX6 Arina Puzriakova Tag Q1_22_MOI was removed from gene: PEX6.
Intellectual disability - microarray and sequencing v4.53 PEX6 Arina Puzriakova commented on gene: PEX6
Intellectual disability - microarray and sequencing v4.52 PEX6 Arina Puzriakova Source NHS GMS was added to PEX6.
Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.1534 PEX6 Sarah Leigh Penetrance for gene PEX6 was set from to Complete
Intellectual disability - microarray and sequencing v3.1533 PEX6 Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.
Intellectual disability - microarray and sequencing v3.1533 PEX6 Sarah Leigh Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.1532 PEX6 Sarah Leigh Phenotypes for gene: PEX6 were changed from Peroxisome biogenesis disorder 4A (Zellweger), 614862Peroxisome biogenesis disorder 4B, 614863; ZELLWEGER SYNDROME (ZWS) to Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862; Peroxisome biogenesis disorder 4B, OMIM:614863
Intellectual disability - microarray and sequencing v3.1531 PEX6 Sarah Leigh Publications for gene: PEX6 were set to
Intellectual disability - microarray and sequencing v3.1530 PEX6 Sarah Leigh Tag Q1_22_MOI tag was added to gene: PEX6.
Intellectual disability - microarray and sequencing v3.1530 PEX6 Sarah Leigh reviewed gene: PEX6: Rating: ; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing PEX6 BRIDGE consortium edited their review of PEX6
Intellectual disability - microarray and sequencing PEX6 BRIDGE consortium edited their review of PEX6
Intellectual disability - microarray and sequencing PEX6 BRIDGE consortium reviewed PEX6