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  2. Multiple pterygium syndrome_Fetal akinesia sequence
  3. ADCY6
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Multiple pterygium syndrome_Fetal akinesia sequence

Gene: ADCY6

Green List (high evidence)
ADCY6 (adenylate cyclase 6)
EnsemblGeneIds (GRCh38): ENSG00000174233
EnsemblGeneIds (GRCh37): ENSG00000174233
OMIM: 600294, Gene2Phenotype
ADCY6 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families and supportive data from a zebrafish model.
Sources: Literature
Created: 14 Jun 2021, 6:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 8, MIM# 616287

Publications

Created: 14 Jun 2021, 6:28 a.m.

Panel version: 0.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lethal congenital contracture syndrome 8, MIM# 616287
  • MONDO:0014570
OMIM
600294
Clinvar variants
Variants in ADCY6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adcy6 has been classified as Green List (High Evidence).

14 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, MIM# 616287; MONDO:0014570 to Lethal congenital contracture syndrome 8, MIM# 616287; MONDO:0014570

14 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, MIM# 616287 to Lethal congenital contracture syndrome 8, MIM# 616287; MONDO:0014570

14 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adcy6 has been classified as Green List (High Evidence).

14 Jun 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADCY6 was added gene: ADCY6 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADCY6 were set to 24319099; 26257172; 31846058 Phenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8, MIM# 616287 Review for gene: ADCY6 was set to GREEN