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Mendeliome v0.14695 GATAD1 Elena Savva Phenotypes for gene: GATAD1 were changed from to ?Cardiomyopathy, dilated, 2B MIM#614672
Mendeliome v0.14694 GATAD1 Elena Savva Marked gene: GATAD1 as ready
Mendeliome v0.14694 GATAD1 Elena Savva Gene: gatad1 has been classified as Red List (Low Evidence).
Mendeliome v0.14694 GATAD1 Elena Savva Publications for gene: GATAD1 were set to
Mendeliome v0.14694 GATAD1 Elena Savva Mode of inheritance for gene: GATAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14580 GATAD1 Chirag Patel Classified gene: GATAD1 as Red List (low evidence)
Mendeliome v0.14580 GATAD1 Chirag Patel Gene: gatad1 has been classified as Red List (Low Evidence).
Mendeliome v0.14579 GATAD1 Chirag Patel reviewed gene: GATAD1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21965549; Phenotypes: ?Cardiomyopathy, dilated, 2B, OMIM # 614672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4320 ATAD1 Zornitza Stark Marked gene: ATAD1 as ready
Mendeliome v0.4320 ATAD1 Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence).
Mendeliome v0.4320 ATAD1 Zornitza Stark Phenotypes for gene: ATAD1 were changed from to Hyperekplexia 4, MIM#618011
Mendeliome v0.4319 ATAD1 Zornitza Stark Publications for gene: ATAD1 were set to
Mendeliome v0.4318 ATAD1 Zornitza Stark Mode of inheritance for gene: ATAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4317 ATAD1 Zornitza Stark changed review comment from: Severe progressive neurological disorder, severe/profound intellectual disability is a feature; to: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures. Severe progressive neurological disorder, severe/profound intellectual disability is a feature.
Mendeliome v0.4317 ATAD1 Zornitza Stark edited their review of gene: ATAD1: Changed publications: 28180185, 29390050, 29659736
Mendeliome v0.0 GATAD1 Zornitza Stark gene: GATAD1 was added
gene: GATAD1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GATAD1 was set to Unknown
Mendeliome v0.0 ATAD1 Zornitza Stark gene: ATAD1 was added
gene: ATAD1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATAD1 was set to Unknown