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Fetal anomalies

Gene: ANKRD17

Green List (high evidence)

ANKRD17 (ankyrin repeat domain 17)
EnsemblGeneIds (GRCh38): ENSG00000132466
EnsemblGeneIds (GRCh37): ENSG00000132466
OMIM: 615929, Gene2Phenotype
ANKRD17 is in 5 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

33909992 - Chopra et al 2021 reported 34 individuals from 33 families with a syndromic ID

Multiple cases with antenatal anomalies or features detectable antenatally reported
- 3/34 with cleft lip and/or palate (including 2 with Pierre Robin sequence)
- 1/34 retrognathia
- 5/34 renal anomalies including 3 with unilateral renal agenesis and 1 with antenatal diagnosis of horseshoe kidney
- 2/34 microcephaly
- 4/34 macrocephaly (1 noted on 37/40 antenatal USS to have macrocephaly and enlarged cisterna magna, 1 also had NSD1 variant)
- 5/34 IUGR/fetal growth concerns
-1/34 with VSD
Sources: Literature
Created: 3 Feb 2022, 4:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chopra-Amiel-Gordon syndrome - MIM#619504; multiple congenital malformations

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Chopra-Amiel-Gordon syndrome - MIM#619504
  • multiple congenital malformations
OMIM
615929
Clinvar variants
Variants in ANKRD17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ankrd17 has been classified as Green List (High Evidence).

23 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ankrd17 has been classified as Green List (High Evidence).

3 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: ANKRD17 was added gene: ANKRD17 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD17 were set to 33909992 Phenotypes for gene: ANKRD17 were set to Chopra-Amiel-Gordon syndrome - MIM#619504; multiple congenital malformations Review for gene: ANKRD17 was set to GREEN