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| White matter disorders and cerebral calcification - narrow panel v2.9 | NAXD | Sarah Leigh Tag Q2_21_rating was removed from gene: NAXD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.9 | NAXD | Sarah Leigh reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.8 | NAXD |
Sarah Leigh Source NHS GMS was added to NAXD. Source Expert Review Green was added to NAXD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v1.165 | NAXD | Ivone Leong commented on gene: NAXD: Affected individuals show normal early development followed by acute psychomotor regression with ataxia, hypotonia, and sometimes seizures triggered by acute fever. The affected infants usually die in the first few years of life. Brain imaging shows multiple abnormalities, including brain edema and white matter abnormalities. The infants also present with skin lesions/rash. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.165 | NAXD | Ivone Leong Tag Q2_21_rating tag was added to gene: NAXD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.165 | NAXD | Ivone Leong Classified gene: NAXD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.165 | NAXD | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.165 | NAXD | Ivone Leong Gene: naxd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.164 | NAXD | Ivone Leong Added comment: Comment on publications: PMID: 31755961 and 33224489 are 2 additional cases. PMID: 31755961 did not mention anything about the patient's brain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.164 | NAXD | Ivone Leong Publications for gene: NAXD were set to 30576410 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.163 | NAXD | Ivone Leong Phenotypes for gene: NAXD were changed from Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.14 | NAXD |
Zornitza Stark gene: NAXD was added gene: NAXD was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAXD were set to 30576410 Phenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 Review for gene: NAXD was set to GREEN gene: NAXD was marked as current diagnostic Added comment: Six unrelated families reported. Sources: Expert list |
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