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DDG2P

Gene: AMOTL1

Green List (high evidence)
AMOTL1 (angiomotin like 1)
EnsemblGeneIds (GRCh38): ENSG00000166025
EnsemblGeneIds (GRCh37): ENSG00000166025
OMIM: 614657, Gene2Phenotype
AMOTL1 is in 4 panels

3 reviews

Eleanor Williams (Genomics England Curator)

This gene has no phenotype in OMIM, but checked this is the correct gene by cross checking the Ensembl Id in Gene2Phenotype and in PanelApp - they are the same https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=5022
Created: 16 Oct 2023, 3:44 p.m. | Last Modified: 16 Oct 2023, 3:44 p.m.
Panel Version: 3.73
Created: 16 Oct 2023, 3:44 p.m.
Last Modified: 16 Oct 2023, 3:44 p.m.
Panel version: 3.73

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature are moderate, monoallelic_autosomal and undetermined (PMID:36751037). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03429.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621192) and the OMIM record was last accessed on 18 December 2025.
Created: 18 Dec 2025, 9:30 p.m. | Last Modified: 18 Dec 2025, 9:30 p.m.
Panel Version: 6.12
The DDG2P confidence category for the disease AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:36751037).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature; MONDO:0971064

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Irina Ziravecka (BKUS)

Green List (high evidence)

PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.
5 out of 16 patients in this cohort have developmental delay.
Created: 11 Jul 2023, 9:03 a.m. | Last Modified: 11 Jul 2023, 9:03 a.m.
Panel Version: 3.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
orofacial clefting; cardiac anomalies; tall stature; distinct dysmorphisms (abnormal head shape, craniosynostosis, hypertelorism, and large ears); myopia; hearing loss; micrognathia; immune dysfunction; scoliosis; chronic constipation; liver dysfunction; global developmental delay

Publications

Mode of pathogenicity
Other

Created: 11 Jul 2023, 8:48 a.m.
Last Modified: 11 Jul 2023, 9:01 a.m.
Panel version: 3.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature
  • Craniofaciocardiohepatic syndrome, OMIM:621192
  • craniofaciocardiohepatic syndrome, MONDO:0978295
OMIM
614657
Clinvar variants
Variants in AMOTL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: AMOTL1 was changed from Other to None

18 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: AMOTL1 were changed from tall stature; cardiac anomalies; orofacial clefting; AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature to AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature; Craniofaciocardiohepatic syndrome, OMIM:621192; craniofaciocardiohepatic syndrome, MONDO:0978295

18 Dec 2025, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked was removed from gene: AMOTL1.

16 Oct 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: AMOTL1.

4 Oct 2023, Gel status: 3

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to AMOTL1. Source DD-Gene2Phenotype was added to AMOTL1. Mode of inheritance for gene AMOTL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature for gene: AMOTL1 Publications for gene: AMOTL1 were updated from PMID: 36751037 to PMID: 36751037; 36751037 Rating Changed from No List (delete) to Green List (high evidence)

11 Jul 2023, Gel status: 0

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

Irina Ziravecka (BKUS)

gene: AMOTL1 was added gene: AMOTL1 was added to DDG2P. Sources: Other Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AMOTL1 were set to PMID: 36751037 Phenotypes for gene: AMOTL1 were set to orofacial clefting; cardiac anomalies; tall stature Mode of pathogenicity for gene: AMOTL1 was set to Other Review for gene: AMOTL1 was set to GREEN