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Pituitary hormone deficiency v2.26 | ARNT2 | Eleanor Williams Classified gene: ARNT2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v2.26 | ARNT2 | Eleanor Williams Added comment: Comment on list classification: Leaving the rating as Red. Still only 1 family with variants in this gene and pituitary hormone deficiency reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v2.26 | ARNT2 | Eleanor Williams Gene: arnt2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v2.25 | ARNT2 | Eleanor Williams Phenotypes for gene: ARNT2 were changed from ?Webb-Dattani syndrome (615926) to ?Webb-Dattani syndrome, OMIM:615926 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v2.24 | ARNT2 |
Eleanor Williams commented on gene: ARNT2: Provisionally associated with Webb-Dattani syndrome in OMIM (#615926, AR) As reviewers note PMID: 24022475 - Webb et al 2013 reports a novel homozygous frameshift variant in ARNT2 in a consanguineous family with six affected children. Phenotypic features include microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract. A search of PubMed did not find any other reported cases. |
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Pituitary hormone deficiency v2.15 | ARNT2 | Eleanor Williams reviewed gene: ARNT2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: HYPOPITUITARISM, LEARNING DIFFICULTIES, MICROCEPHALY, DIABETES INSIPIDUS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v0.65 | ARNT2 | Ivone Leong Marked gene: ARNT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v0.65 | ARNT2 | Ivone Leong Gene: arnt2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v0.36 | ARNT2 | Ivone Leong commented on gene: ARNT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v0.36 | ARNT2 | Ivone Leong Publications for gene: ARNT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pituitary hormone deficiency v0.5 | ARNT2 |
Ivone Leong gene: ARNT2 was added gene: ARNT2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARNT2 were set to ?Webb-Dattani syndrome (615926) |