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Pigmentary skin disorders v1.42 COX7B Arina Puzriakova Tag Q4_21_rating was removed from gene: COX7B.
Tag Q4_21_NHS_review was removed from gene: COX7B.
Pigmentary skin disorders v1.42 COX7B Arina Puzriakova commented on gene: COX7B
Pigmentary skin disorders v1.41 COX7B Arina Puzriakova Source Expert Review Green was added to COX7B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pigmentary skin disorders v1.20 COX7B Ivone Leong Classified gene: COX7B as Amber List (moderate evidence)
Pigmentary skin disorders v1.20 COX7B Ivone Leong Added comment: Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Pigmentary skin disorders v1.20 COX7B Ivone Leong Gene: cox7b has been classified as Amber List (Moderate Evidence).
Pigmentary skin disorders v1.19 COX7B Ivone Leong Tag Q4_21_rating tag was added to gene: COX7B.
Tag Q4_21_NHS_review tag was added to gene: COX7B.
Pigmentary skin disorders v1.19 COX7B Ivone Leong Phenotypes for gene: COX7B were changed from Linear Skin Defects with Multiple Congenital Anomalies to Linear skin defects with multiple congenital anomalies 2, OMIM:300887
Pigmentary skin disorders v1.16 COX7B Tom Cullup gene: COX7B was added
gene: COX7B was added to Pigmentary skin disorders. Sources: Other
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: COX7B were set to 33670341
Phenotypes for gene: COX7B were set to Linear Skin Defects with Multiple Congenital Anomalies
Penetrance for gene: COX7B were set to unknown
Review for gene: COX7B was set to GREEN
Added comment: XLD - lethal in males
Sources: Other